Submissions for variant NM_002528.7(NTHL1):c.444G>A (p.Ala148=)

gnomAD frequency: 0.00004  dbSNP: rs145366761

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000935646	SCV000726981	likely benign	not provided	2021-02-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000935646	SCV001081398	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001022899	SCV001184692	likely benign	Hereditary cancer-predisposing syndrome	2019-05-23	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.
Sema4, Sema4	RCV001022899	SCV002528977	likely benign	Hereditary cancer-predisposing syndrome	2021-07-22	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003962814	SCV004776972	likely benign	NTHL1-related disorder	2022-05-04	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).