ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val)

dbSNP: rs1356431718
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001197652 SCV001368431 uncertain significance Hypertrophic cardiomyopathy 4 2019-11-22 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence favors the pathogenic nature of this variant, however the currently available data is insufficient to conclusively support its pathogenic nature. Thus this variant is classified as Uncertain significance - favor pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3.
Color Diagnostics, LLC DBA Color Health RCV001806039 SCV002052298 uncertain significance Cardiomyopathy 2024-03-06 criteria provided, single submitter clinical testing This missense variant replaces alanine with valine at codon 337 of the MYBPC3 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/248282 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 RCV004986933 SCV005455757 uncertain significance Cardiovascular phenotype 2024-11-02 criteria provided, single submitter clinical testing The p.A337V variant (also known as c.1010C>T), located in coding exon 12 of the MYBPC3 gene, results from a C to T substitution at nucleotide position 1010. The alanine at codon 337 is replaced by valine, an amino acid with 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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