ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp) (rs747857800)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520274 SCV000617217 uncertain significance not provided 2018-11-20 criteria provided, single submitter clinical testing The R17W variant of uncertain significance in the MYBPC3 gene has been reported in 1/3,267 individuals with a clinical diagnosis of HCM undergoing genetic testing at Oxford Medical Genetics Laboratories; however, specific clinical and familial segregation information was not provided (Walsh et al., 2017). R17W was observed in 4/16,908 (0.02%) alleles from individuals of East Asian ancestry in the gnomAD dataset (Lek et al., 2016). The R17W variant is 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. Moreover, this substitution occurs at a position where only amino acids with similar properties to arginine are tolerated across species. Nevertheless, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.
GenomeConnect, ClinGen RCV000845098 SCV000986950 not provided Hypertrophic cardiomyopathy no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 11/30/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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