ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.172G>A (p.Val58Met)

dbSNP: rs1177326558
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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 RCV001890695 SCV002156436 uncertain significance not provided 2020-10-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with NTHL1-related conditions. This sequence change replaces valine with methionine at codon 66 of the NTHL1 protein (p.Val66Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV003355612 SCV004062595 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-07 criteria provided, single submitter clinical testing The p.V66M variant (also known as c.196G>A), located in coding exon 2 of the NTHL1 gene, results from a G to A substitution at nucleotide position 196. The valine at codon 66 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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