ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.1074G>T (p.Trp358Cys) (rs587777354)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000115017 SCV001393788 uncertain significance Congenital myopathy with excess of thin filaments 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with cysteine at codon 358 of the ACTA1 protein (p.Trp358Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with nemaline myopathy and dilated cardiomyopathy (PMID: 23650303). ClinVar contains an entry for this variant (Variation ID: 127188). 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: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000115017 SCV000148926 pathogenic Congenital myopathy with excess of thin filaments 2013-06-01 no assertion criteria provided literature only

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