ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3796T>C (p.Cys1266Arg) (rs730880608)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000158269 SCV000208204 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing p.Cys1266Arg (C1266R) TGC>CGC: c.3796 T>C in exon 33 of the MYBPC3 gene (NM_000256.3)The C1266R mutation in the MYBPC3 gene has been reported with another MYBPC3 mutation (E1265V) in one 46-year-old male with a diagnosis of HCM (Maron B et al., 2012). Maron et al. (2012) reported this mutation was not observed in 300 unrelated healthy, ethnically-matched chromosomes. Furthermore, the C1266R mutation was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. C1266R results in a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. A mutation in the same residue (C1266Y) and mutations in nearby residues (G1260D, C1264F, E1265V, L1268Q) have been reported in association with cardiomyopathy, further supporting the functional importance of this residue and region of the protein. The variant is found in HCM panel(s).
Ambry Genetics RCV000619917 SCV000740125 uncertain significance Cardiovascular phenotype 2017-02-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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