ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) (rs727503277)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766407 SCV000208688 uncertain significance not provided 2014-06-25 criteria provided, single submitter clinical testing p.Pro211Leu (CCG>CTG): c.632 C>T in exon 7 of the MYH7 gene (NM_000257.2). The P211L variant has been reported in association with HCM (Woo et al., 2003; Mohiddin et al., 2003; Perrot et al., 2005; Gruner et al., 2011). The P211L has been reported as a mutation in 3 individuals with HCM from a cohort of 65 unrelated affected individuals, but was not seen in 106 healthy controls (Woo et al., 2003). Mohiddin et al., 2003, described a 56 year old patient with the P211L mutation (as well as a R663H mutation), which was absent from 200 control chromosomes. Additionally, Gruner et al, 2011, identified one patient with the P211L mutation (who also had a G541D MYH7 variant) in 61 patients with a known diagnosis of HCM. P211L results in a semi-conservative amino acid substitution of Proline at a position that is not conserved across species. The P211L 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. Furthermore, missense mutations in nearby residues (S205Q, K207Q, Q209E, G214D, L216V) have been reported in association with HCM, supporting the functional importance of this region of the protein. In summary, P211L in the MYH7 gene is interpreted as disease-causing mutation. The variant is found in HCM panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151310 SCV000199267 likely pathogenic Hypertrophic cardiomyopathy 2018-07-24 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845527 SCV000987639 uncertain significance Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing

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