ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.999del (p.Glu332_Tyr333insTer)

dbSNP: rs2495771025
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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 RCV003532631 SCV004358754 pathogenic Cardiomyopathy 2022-10-13 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 12 of the MyBP-C motif of the MYBPC3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
All of Us Research Program, National Institutes of Health RCV004011510 SCV004834023 pathogenic Hypertrophic cardiomyopathy 2023-07-19 criteria provided, single submitter clinical testing This variant deletes 1 nucleotide in exon 12 of the MyBP-C motif of the MYBPC3 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of MYBPC3 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.

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