ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.913T>C (p.Ter305Arg)

dbSNP: rs778951506
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885912 SCV002143423 uncertain significance not provided 2023-07-14 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1376459). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. This variant is present in population databases (rs778951506, gnomAD 0.0009%). This sequence change disrupts the translational stop signal of the NTHL1 mRNA. It is expected to extend the length of the NTHL1 protein by an uncertain number of additional amino acid residues.

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