Submissions for variant NM_002230.4(JUP):c.1371C>T (p.Cys457=)

gnomAD frequency: 0.00004  dbSNP: rs531692563

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000425670	SCV000515814	likely benign	not specified	2016-11-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001468360	SCV001672404	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-11-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379310	SCV002698014	likely benign	Cardiovascular phenotype	2019-08-10	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.