ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.3421G>A (p.Ala1141Thr)

gnomAD frequency: 0.00321  dbSNP: rs150404143
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172773 SCV000051414 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000172773 SCV000269404 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ala1141Thr in exon 18 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (60/4406) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs150404143).
Invitae RCV000228573 SCV000291121 benign Dilated cardiomyopathy 1KK 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000172773 SCV000513844 benign not specified 2015-04-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000618665 SCV000736488 benign Cardiovascular phenotype 2015-08-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000228573 SCV000745067 benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907546 SCV004724605 benign MYPN-related condition 2019-04-01 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000172773 SCV001921825 benign not specified no assertion criteria provided clinical testing

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