ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2180T>G (p.Leu727Arg) (rs1572148902)

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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 RCV000855691 SCV001426213 likely pathogenic Myopathy, congenital, with structured cores and z-line abnormalities 2020-06-25 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Myopathy, congenital, with structured cores and Z-line abnormalities, 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); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Assumed de novo, but no confirmation of paternity and maternity (PM6); Well-established functional studies show a deleterious effect (PS3 downgraded to moderate).
OMIM RCV000855691 SCV000998840 pathogenic Myopathy, congenital, with structured cores and z-line abnormalities 2019-11-08 no assertion criteria provided literature only

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