ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs199771569
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001039767 SCV001203313 uncertain significance not provided 2024-12-14 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the NTHL1 gene. It does not directly change the encoded amino acid sequence of the NTHL1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 838254). Studies have shown that this variant is associated with inconclusive levels of altered splicing (internal data). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV002255607 SCV002528984 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-08 criteria provided, single submitter curation

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