ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.770A>G (p.His257Arg)

dbSNP: rs890299857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338605 SCV001532285 uncertain significance Hypertrophic cardiomyopathy 2024-07-15 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 257 of the MYBPC3 protein (p.His257Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1035704). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004639585 SCV005145669 uncertain significance Cardiovascular phenotype 2024-04-16 criteria provided, single submitter clinical testing The p.H257R variant (also known as c.770A>G), located in coding exon 6 of the MYBPC3 gene, results from an A to G substitution at nucleotide position 770. The histidine at codon 257 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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