ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3518A>G (p.Lys1173Arg)

gnomAD frequency: 0.00001  dbSNP: rs1165270727
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187890 SCV001354803 uncertain significance Cardiomyopathy 2019-12-09 criteria provided, single submitter clinical testing This missense variant replaces lysine with arginine at codon 1173 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). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/31356 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 RCV002451392 SCV002614648 uncertain significance Cardiovascular phenotype 2021-11-04 criteria provided, single submitter clinical testing The p.K1173R variant (also known as c.3518A>G), located in coding exon 32 of the MYBPC3 gene, results from an A to G substitution at nucleotide position 3518. The lysine at codon 1173 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is 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.

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