GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
ACAD8 R102Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
ACAD8 M103Tinsufficiently evaluated pathogenicunknown
ACAD8 S171Cuncertain pathogenic, f=0.018recessive

This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant.

CGI sample GS00253-DNA_A01_200_37
CGI sample GS00253-DNA_D01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
ACAD8 H267Qinsufficiently evaluated pathogenicunknown

(1 web hit)

ACAD8 R302Qinsufficiently evaluated pathogenicunknown

(1 web hit)

ACAD8 R308Winsufficiently evaluated pathogenicunknown

(1 web hit)

ACAD8 G355Sinsufficiently evaluated pathogenicunknown

(1 web hit)

ACAD8 V388Minsufficiently evaluated not reviewed, f=0.001unknown var-GS18505-1100-36-ASM
Total results: 8

Gene search

"GENE" or "GENE A123C":

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