ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2856T>G (p.Pro952=)

dbSNP: rs397515989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035532 SCV000059182 likely benign not specified 2011-09-30 criteria provided, single submitter clinical testing Pro952Pro in exon 27 of MYBPC3: This variant does not change an amino acid and d oes not affect the splice consensus sequence. This makes a disease causing role very unlikely.
Ambry Genetics RCV000247708 SCV000317576 likely benign Cardiovascular phenotype 2012-08-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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