ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.120G>A (p.Ala40=)

gnomAD frequency: 0.00004  dbSNP: rs143726834
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000930550 SCV001076204 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000930550 SCV001788532 likely benign not provided 2020-04-07 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268358 SCV002551614 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390942 SCV002698108 likely benign Hereditary cancer-predisposing syndrome 2020-02-05 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.

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