ClinVar Miner

Submissions for variant NM_005159.5(ACTC1):c.69T>A (p.Phe23Leu) (rs1555419008)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523252 SCV000618717 uncertain significance not provided 2017-07-04 criteria provided, single submitter clinical testing The c.69 T>A nucleotide substitution, resulting in the F23L amino acid change in this individual, has not been reported previously as a pathogenic or benign variant to our knowledge. However, a different nucleotide substitution (c.67 T>C) that also results in the F23L missense substitution was previously reported in association with cardiomyopathy (Coppini et al., 2014). The F23L (c.69 T>A) variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species and in silico analysis suggests that this variant is probably damaging to the protein structure/function. Nevertheless, the F23L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties.

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