ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) (rs367543048)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693406 SCV000821274 pathogenic Nemaline myopathy 3 2018-02-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 6 of the ACTA1 protein (p.Glu6Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with congenital myopathy, nemaline myopathy, and congenital fiber type disproportion (PMID: 19562689, 2462510, 2617852). This variant has been reported to be de novo in individuals affected with congenital fiber type disproportion and nemaline myopathy (PMID: 19562689, 26172852). ClinVar contains an entry for this variant (Variation ID: 42107). 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: "Benign"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000034934 SCV000058542 pathologic Congenital myopathy with fiber type disproportion 2013-04-11 no assertion criteria provided curation Converted during submission to Pathogenic.

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