ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1921A>G (p.Arg641Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005234635 SCV005878776 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing The MYBPC3 c.1921A>G; p.Arg641Gly variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.513). Due to limited information, the clinical significance of this variant is uncertain at this time.

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