ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.526-10T>G

dbSNP: rs199771569
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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 RCV001421201 SCV001623723 likely benign not provided 2025-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001421201 SCV001815303 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001421201 SCV005623941 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing The NTHL1 c.550-10T>G variant has not been reported in individuals with NTHL1-related conditions in the published literature. The frequency of this variant in the general population, 0.000004 (1/247922 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on NTHL1 mRNA splicing yielded inconclusive findings. Based on the available information, we are unable to determine the clinical significance of this variant.

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