Submissions for variant NM_002528.7(NTHL1):c.489G>A (p.Thr163=)

gnomAD frequency: 0.00008  dbSNP: rs760491144

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000941155	SCV001087035	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001023600	SCV001185502	likely benign	Hereditary cancer-predisposing syndrome	2018-11-10	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.
GeneDx	RCV000941155	SCV001825260	likely benign	not provided	2020-08-19	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001023600	SCV002528981	likely benign	Hereditary cancer-predisposing syndrome	2021-09-02	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003925836	SCV004737747	likely benign	NTHL1-related disorder	2023-12-14	criteria provided, single submitter	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).