ClinVar Miner

Submissions for variant NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)

dbSNP: rs1421405659
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000626001 SCV000746609 likely pathogenic MYBPC1-related disorder 2018-02-22 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000850131 SCV001950131 likely pathogenic Myopathy, congenital, with tremor 2021-07-26 criteria provided, single submitter clinical testing
GeneDx RCV001731818 SCV001983891 pathogenic not provided 2024-07-24 criteria provided, single submitter clinical testing Published functional studies demonstrate that this variant likely impacts protein stability (PMID: 31264822); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31620961, 31264822, 37577974, 30339776, 36854776, 33093671)
OMIM RCV000850131 SCV000992295 pathogenic Myopathy, congenital, with tremor 2024-07-16 no assertion criteria provided literature only

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