ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1372C>A (p.Arg458Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005052284 SCV005685433 uncertain significance Hypertrophic cardiomyopathy 4 2024-10-17 criteria provided, single submitter clinical testing The MYBPC3 c.1372C>A (p.Arg458Ser) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating that it is not a common variant. Computational predictors indicate this impact has no impact on MYBPC3 function. Due to limited information and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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