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Tentatively classified as benign, although Polyphen 2 predicts a damaging effect. Other recessive variants in this gene are reported to cause Emery-Dreifuss muscular dystrophy or spinocerebellar ataxia, but these are generally more severe and/or far earlier in the peptide sequence.

This may be rare and may cause cerebellar ataxia in a recessive manner. This is a disruptive variant, but most of reported causal variants have been upstream of this position — the few reports of causal downstream variants lack statistical significance. This protein is very large, it’s possible that truncating variants this far along in the product do not have as severe an effect.

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