ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2605C>T (p.Pro869Ser)

gnomAD frequency: 0.00001  dbSNP: rs1219654172
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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 RCV001187206 SCV001353938 uncertain significance Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant is located in the fibronectin type 3 domain C6 of the MYBPC3 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Ambry Genetics RCV003163455 SCV003911864 uncertain significance Cardiovascular phenotype 2023-01-09 criteria provided, single submitter clinical testing The p.P869S variant (also known as c.2605C>T), located in coding exon 26 of the MYBPC3 gene, results from a C to T substitution at nucleotide position 2605. The proline at codon 869 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV003319446 SCV004023868 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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