ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.109G>C (p.Val37Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792251 SCV000931532 pathogenic Nemaline myopathy 3 2018-07-12 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 37 of the ACTA1 protein (p.Val37Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in multiple individuals and families affected with nemaline myopathy, and in at least one of these individuals this variant has been observed to be de novo (PMID: 12921789, 15236405, 19562689). This variant is also known as c.212G_x0007_>C in the literature. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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