Submissions for variant NM_002528.7(NTHL1):c.384G>C (p.Leu128=)

dbSNP: rs755185485

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001772493	SCV001994272	uncertain significance	not provided	2019-07-09	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001772493	SCV002383313	likely benign	not provided	2024-02-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002324179	SCV002628314	likely benign	Hereditary cancer-predisposing syndrome	2021-06-15	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.