ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.161C>T (p.Ser54Phe) (rs730880391)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157778 SCV000207708 uncertain significance not provided 2012-11-01 criteria provided, single submitter clinical testing p.Ser54Phe (TCC>TTC):c.161 C>T in exon 3 of the ACTC1 gene (NM_005159.4)T. he Ser54Phe variant in the ACTC1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ser54Phe results in a non-conservative amino acid substitution of a polar Serine residue with a non-polar Phenylalanine residue at a position that is conserved across species. In silico analysis predicts Ser54Phe is probably damaging to the protein structure/function. The NHLBI ESP Exome Variant Server reports Ser54Phe was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Nevertheless, no mutations in nearby residues of the ACTC1 gene have been reported in association with cardiomyopathy, indicating this region could be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Ser54Phe is a disease-causing mutation or a rare benign variant. The variant is found in DCM panel(s).

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