ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)

dbSNP: rs367543048
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693406 SCV000821274 pathogenic Actin accumulation myopathy 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 6 of the ACTA1 protein (p.Glu6Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with congenital fiber type disproportion, congenital myopathy, and/or nemaline myopathy (PMID: 19562689, 24642510, 26172852). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 42107). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACTA1 protein function. For these reasons, this variant has been classified as Pathogenic.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198948 SCV001369943 likely pathogenic Progressive scapulohumeroperoneal distal myopathy 2019-08-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3,PP4,PP5.
GeneReviews RCV000034934 SCV000058542 not provided Congenital myopathy with fiber type disproportion no assertion provided literature only

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