ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.912_913dup (p.Ter305SerextTer?)

dbSNP: rs2150937701
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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 RCV001965712 SCV002246208 uncertain significance not provided 2024-03-07 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the NTHL1 mRNA. It is expected to extend the length of the NTHL1 protein by 28 additional amino acid residues. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002258346 SCV002529034 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-13 criteria provided, single submitter curation

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