ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.904C>T (p.Gln302Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003463211 SCV004192178 uncertain significance Familial adenomatous polyposis 3 2023-05-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003779065 SCV004642568 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln310*) in the NTHL1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 3 amino acid(s) of the NTHL1 protein. This variant is present in population databases (rs748270262, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with oligodendroglioma (PMID: 29625052). 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.

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