ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.717C>T (p.Asn239=)

gnomAD frequency: 0.00001  dbSNP: rs1475205147
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495349 SCV001700029 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384823 SCV002674480 likely benign Hereditary cancer-predisposing syndrome 2020-06-25 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001495349 SCV004222224 uncertain significance not provided 2022-09-26 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.00025 (4/16244 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect NTHL1 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.

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