Submissions for variant NM_032578.4(MYPN):c.3167C>T (p.Ser1056Phe)

gnomAD frequency: 0.00001  dbSNP: rs373101027

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000621402	SCV000736521	likely benign	Cardiovascular phenotype	2020-10-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861131	SCV001001359	likely benign	Dilated cardiomyopathy 1KK	2025-01-01	criteria provided, single submitter	clinical testing
Genetics and Genomics Program, Sidra Medicine	RCV001293105	SCV001434089	likely benign	Hypertrophic cardiomyopathy		criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV004748861	SCV005362543	likely benign	MYPN-related disorder	2024-07-15	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).