ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala)

gnomAD frequency: 0.00225  dbSNP: rs147287437
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704884 SCV000236037 likely benign not provided 2021-06-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26937396)
Invitae RCV000456265 SCV000563303 benign Dilated cardiomyopathy 1KK 2024-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000183568 SCV000711512 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing p.Thr746Ala in exon 12 of MYPN: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (75/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs147287437).
Ambry Genetics RCV000621771 SCV000736278 likely benign Cardiovascular phenotype 2018-10-03 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000456265 SCV000745055 likely benign Dilated cardiomyopathy 1KK 2015-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001704884 SCV001471494 likely benign not provided 2020-06-23 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252026 SCV002523565 likely benign See cases 2020-02-25 criteria provided, single submitter clinical testing ACMG classification criteria: BP1, BP6
CeGaT Center for Human Genetics Tuebingen RCV001704884 SCV004009982 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MYPN: BP4, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000183568 SCV004038579 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917694 SCV004731093 likely benign MYPN-related condition 2020-09-17 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).
Clinical Genetics, Academic Medical Center RCV001704884 SCV001917155 likely benign not provided no assertion criteria provided clinical testing

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