ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.2194_2226del (p.Ala732_Ile742del) (rs1572148914)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV000855692 SCV001430768 likely pathogenic Myopathy, congenital, with structured cores and z-line abnormalities 2020-05-28 criteria provided, single submitter research The heterozygous p.Ala732_Ile742del variant in ACTN2 was identified by our study in an individual with congenital myopathy with structured cores and Z-line abnormalities (PMID: 30701273). Trio exome analysis showed this variant to be de novo. This variant was absent from large population studies. This variant is a deletion of 33 bases at position 2194 and is not predicted to alter the protein reading-frame. It is unclear if this deletion will impact the protein. In summary, although additional studies are required to fully establish its clinical significance, this variant is likely pathogenic. ACMG/AMP Criteria applied: PS2, PM2, PM4 (Richards 2015).
OMIM RCV000855692 SCV000998841 pathogenic Myopathy, congenital, with structured cores and z-line abnormalities 2019-11-08 no assertion criteria provided literature only

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