ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu)

dbSNP: rs104894546
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000680834 SCV000808283 pathogenic not provided 2018-04-17 criteria provided, single submitter clinical testing The P264L variant in the ACTG1 gene has been reported previously to segregate in a family with hearing loss (Zhu et al., 2003). The P264L variant is not observed in large population cohorts (Lek et al., 2016). The P264L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In addition, mice homozygous for the P264L variant developed hearing loss (Drummond et al., 2012). We interpret P264L as a pathogenic variant.
OMIM RCV000019983 SCV000040281 pathogenic Autosomal dominant nonsyndromic hearing loss 20 2003-11-01 no assertion criteria provided literature only

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