ClinVar Miner

Submissions for variant NM_032578.4(MYPN):c.1122G>A (p.Glu374=)

gnomAD frequency: 0.00101  dbSNP: rs145103325
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Total submissions: 6
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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 RCV000220655 SCV000269383 benign not specified 2015-04-13 criteria provided, single submitter clinical testing p.Glu374Glu in exon 5 of MYPN: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.3% (35/10374) of Af rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org; dbSNP rs145103325).
Ambry Genetics RCV000250377 SCV000320001 likely benign Cardiovascular phenotype 2015-07-01 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.
GeneDx RCV000220655 SCV000729231 benign not specified 2017-05-01 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.
Invitae RCV000860673 SCV001000799 benign Dilated cardiomyopathy 1KK 2024-01-24 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000220655 SCV001923145 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727636 SCV001971105 likely benign not provided no assertion criteria provided clinical testing

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