ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys)

dbSNP: rs367543051
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001347111 SCV001541356 uncertain significance Actin accumulation myopathy 2018-06-22 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has been observed to be de novo in an individual affected with nemaline myopathy (PMID: 12921789). This variant is also known as p.Glu241Lys in the literature. ClinVar contains an entry for this variant (Variation ID: 42109). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 243 of the ACTA1 protein (p.Glu243Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine.
GeneReviews RCV000034936 SCV000058545 not provided Congenital myopathy with fiber type disproportion no assertion provided literature only

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