ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1459T>C (p.Cys487Arg) (rs1572140109)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000855694 SCV001426211 likely pathogenic Myopathy, distal, 6, adult-onset, autosomal dominant 2020-06-25 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Myopathy, distal, 6, adult onset, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Prevalence in affected individuals statistically increased over controls (PS4 downgraded to supporting); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1 upgraded to strong).
OMIM RCV000855694 SCV000998843 pathogenic Myopathy, distal, 6, adult-onset, autosomal dominant 2019-11-11 no assertion criteria provided literature only

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