ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys)

dbSNP: rs1659962077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001267703 SCV001445954 likely pathogenic Congenital myopathy with fiber type disproportion 2020-11-16 criteria provided, single submitter curation The heterozygous p.Ile194_Glu197delinsLys variant in ACTA1 was identified by our study in 1 individual with congenital fiber-type disproportion myopathy. Trio genome analysis showed this variant to be de novo. The variant has not been previously reported in individuals with congenital fiber-type disproportion myopathy and was absent from large population studies. This variant is a deletion of 9 bases at position 581 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).

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