ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.420T>C (p.Tyr140=)

gnomAD frequency: 0.00007  dbSNP: rs71578990
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655059 SCV000776981 likely benign Dilated cardiomyopathy 1KK 2023-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326684 SCV002630071 likely benign Cardiovascular phenotype 2019-12-12 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.
PreventionGenetics, part of Exact Sciences RCV003934852 SCV004751410 likely benign MYPN-related condition 2019-06-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Leiden Muscular Dystrophy (MYPN) RCV000024494 SCV000045798 not provided not provided 2012-04-27 no assertion provided curation

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