ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.1054T>C (p.Ser352Pro) (rs1553255301)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543487 SCV000638354 likely pathogenic Nemaline myopathy 3 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 352 of the ACTA1 protein (p.Ser352Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been shown to arise de novo in an individual affected with congenital myopathy (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: "Possibly 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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