ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2501G>C (p.Arg834Pro)

gnomAD frequency: 0.00001  dbSNP: rs540988604
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191666 SCV001359561 uncertain significance Cardiomyopathy 2023-05-12 criteria provided, single submitter clinical testing This missense variant replaces arginine with proline at codon 834 of the MYBPC3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with MYBPC3-related disorders in the literature. This variant has been identified in 1/249096 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002429842 SCV002741912 uncertain significance Cardiovascular phenotype 2022-03-08 criteria provided, single submitter clinical testing The p.R834P variant (also known as c.2501G>C), located in coding exon 25 of the MYBPC3 gene, results from a G to C substitution at nucleotide position 2501. The arginine at codon 834 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002559196 SCV003496228 uncertain significance Hypertrophic cardiomyopathy 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 834 of the MYBPC3 protein (p.Arg834Pro). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 928018). 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.

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