ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.915A>G (p.Ter305Trp)

dbSNP: rs2150937695
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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 RCV002046945 SCV002109045 uncertain significance not provided 2021-03-10 criteria provided, single submitter clinical testing 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. 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NTHL1-related conditions.
Ambry Genetics RCV002370359 SCV002684970 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-14 criteria provided, single submitter clinical testing The c.939A>G variant (also known as p.*313Wext*37), located in coding exon 6 of the NTHL1 gene, results from an A to G substitution at nucleotide position 939. This alteration disrupts the stop codon of the NTHL1 gene and is predicted to preserve the native sequence while resulting in the elongation of the protein by 37 amino acids. The exact functional effect of the additional amino acids is unknown. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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