ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.871T>C (p.Ser291Pro) (rs730880857)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158770 SCV000208705 likely pathogenic not provided 2014-10-02 criteria provided, single submitter clinical testing p.Ser291Pro (TCT>CCT): c.871 T>C in exon 10 of the MYH7 gene (NM_000257.2). The S291P variant that is likely pathogenic was identified in the MYH7 gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. A mutation affecting the same residue, S291F, has been reported in association with HCM, however the authors did not provide clinical data or segregation information. Additionally, mutations in nearby residues (Y281T, L301Q) have been reported in association with cardiomyopathy, further supporting the functional importance of this residue and this region of the protein. S291P results in a non-conservative amino acid substitution of a polar Serine residue with a non-polar Proline residue. Furthermore, the S291P 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. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in DCM,DCM-CRDM panel(s).

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