ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3591C>A (p.Gly1197=)

gnomAD frequency: 0.00003  dbSNP: rs876657538
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Total submissions: 3
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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 RCV000217737 SCV000270593 likely benign not specified 2015-07-07 criteria provided, single submitter clinical testing p.Gly1197Gly in exon 19 of MYPN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Labcorp Genetics (formerly Invitae), Labcorp RCV000866821 SCV001007965 likely benign Dilated cardiomyopathy 1KK 2024-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338668 SCV002619378 likely benign Cardiovascular phenotype 2022-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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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