ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.408G>C (p.Gly136=)

gnomAD frequency: 0.00001  dbSNP: rs1057520977
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438571 SCV000520378 likely benign not specified 2015-11-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV001184546 SCV001350555 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Invitae RCV002064974 SCV002345849 likely benign Hypertrophic cardiomyopathy 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003168643 SCV003857402 uncertain significance Cardiovascular phenotype 2023-02-23 criteria provided, single submitter clinical testing The c.408G>C variant (also known as p.G136G), located in coding exon 4 of the MYBPC3 gene, results from a G to C substitution at nucleotide position 408. This nucleotide substitution does not change the glycine at codon 136. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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