ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3417C>T (p.Arg1139=)

gnomAD frequency: 0.00003  dbSNP: rs144488384
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175237 SCV000226686 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000175237 SCV000270591 likely benign not specified 2015-06-26 criteria provided, single submitter clinical testing p.Arg1139Arg in exon 18 of MYPN: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue. It has been identif ied in 0.1% (10/8644) of East Asian chromosomes by the Exome Aggregation Consort ium (ExAC, http://exac.broadinstitute.org; dbSNP rs144488384).
Ambry Genetics RCV000241815 SCV000319713 likely benign Cardiovascular phenotype 2020-06-26 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.
Invitae RCV000532775 SCV000659204 likely benign Dilated cardiomyopathy 1KK 2023-12-26 criteria provided, single submitter clinical testing
GeneDx RCV001594865 SCV001829737 likely benign not provided 2021-03-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001594865 SCV004126623 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing MYPN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003947482 SCV004765406 likely benign MYPN-related condition 2020-08-21 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).

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