Submissions for variant NM_025219.3(DNAJC5):c.531C>T (p.Ser177=)

gnomAD frequency: 0.00012  dbSNP: rs376694698

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001697541	SCV000718947	likely benign	not provided	2020-11-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001451541	SCV001655172	likely benign	Neuronal ceroid lipofuscinosis	2024-10-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350471	SCV002647257	likely benign	Inborn genetic diseases	2019-12-05	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.
PreventionGenetics, part of Exact Sciences	RCV004758708	SCV005353836	likely benign	DNAJC5-related disorder	2024-08-19	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).