Submissions for variant NM_032578.4(MYPN):c.734C>G (p.Ala245Gly)

gnomAD frequency: 0.00093  dbSNP: rs143574079

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213213	SCV000270595	likely benign	not specified	2015-10-31	criteria provided, single submitter	clinical testing	p.Ala245Gly in exon 3 of MYPN: This variant is not expected to have clinical sig nificance because it has been identified in 0.3% (28/10386) of African chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs143574079).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229711	SCV000291127	likely benign	Dilated cardiomyopathy 1KK	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252158	SCV000320136	likely benign	Cardiovascular phenotype	2018-05-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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	RCV001530400	SCV000518056	likely benign	not provided	2020-08-18	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001530400	SCV001922727	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001530400	SCV001926735	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530400	SCV001975691	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937835	SCV004750609	likely benign	MYPN-related disorder	2021-10-29	no assertion criteria provided	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).