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 Institute Rare Disease Group, Broad Institute 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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