ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.766C>T (p.Arg256Cys) (rs1558081624)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688041 SCV000815637 likely pathogenic Nemaline myopathy 3 2018-09-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 256 of the ACTA1 protein (p.Arg256Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with profound hypotonia and contractures (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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