ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3156C>T (p.His1052=)

gnomAD frequency: 0.00001  dbSNP: rs876657923
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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 RCV000215272 SCV000272185 uncertain significance not specified 2015-05-07 criteria provided, single submitter clinical testing The p.His1052His variant in MYPN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the last three bases of the exon, which is part of the 5? splice region. Computa tional tools do not predict altered splicing. However, this information is not p redictive enough to rule out pathogenicity. In summary, the clinical significanc e of the p.His1052His variant is uncertain.
Invitae RCV000878082 SCV001020931 likely benign Dilated cardiomyopathy 1KK 2022-10-24 criteria provided, single submitter clinical testing

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