GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCC9 N330Sinsufficiently evaluated noneunknown
ABCC9 S625Linsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
ABCC9 V637Iinsufficiently evaluated not reviewed, f=0.000unknown
ABCC9 V698Iinsufficiently evaluated not reviewedunknown
ABCC9 V734Iuncertain benign, f=0.008unknown

Reported as a likely cause of myocardial infarction, as recorded in ClinVar by LabCorp (http://www.ncbi.nlm.nih.gov/clinvar/RCV000029274/). LabCorp’s ClinVar submission cites Zimmerman et al (PMID: 20474083); Zimmerman et al in turn cite Minoretti et al 2006 (PMID: 16563363) as reporting increased risk of myocardial infarction (heart attack) for this variant. There seem to be no subsequent publications confirming this effect; even if true, it should be classified as a “risk factor” in ClinVar (rather than “pathogenic” or “likely pathogenic”).

CGI sample GS00253-DNA_A02_200_37
ABCC9 L877Finsufficiently evaluated noneunknown
ABCC9 L913Finsufficiently evaluated noneunknown
ABCC9 Q1032Linsufficiently evaluated not reviewedunknown CGI sample GS000006909
ABCC9 L1136Finsufficiently evaluated not reviewedunknown
ABCC9 L1172Finsufficiently evaluated not reviewedunknown
ABCC9 A1513Tinsufficiently evaluated pathogenicunknown

(3 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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