ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.952G>A (p.Glu318Lys) (rs730880403)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157798 SCV000207728 likely pathogenic not provided 2013-10-08 criteria provided, single submitter clinical testing p.Glu318Lys (GAA>AAA): c.952 G>A in exon 6 of the ACTC1 gene (NM_005159.4). The Glu318Lys variant in the ACTC1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Glu318Lys results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine at a position that is conserved across species. In silico analysis predicts Glu318Lys is probably damaging to the protein structure/function. Mutations in nearby residues (Arg314His, Arg314Cys, Ala232Val) have been reported in association with cardiomyopathy further supporting the functional importance of this region of the protein. Furthermore, the Glu318Lys variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, while Glu318Lys is a good candidate for a disease-causing mutation, with the clinical and molecular information available at this time we cannot unequivocally determine the clinical significance of this variant. The variant is found in DCM panel(s).

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