ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.613G>A (p.Ala205Thr)

gnomAD frequency: 0.00001  dbSNP: rs772432408
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000813666 SCV000954034 uncertain significance not provided 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 213 of the NTHL1 protein (p.Ala213Thr). This variant is present in population databases (rs772432408, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 657110). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV000813666 SCV001767694 uncertain significance not provided 2019-06-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002352424 SCV002655266 likely benign Hereditary cancer-predisposing syndrome 2024-04-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV003461216 SCV004192098 uncertain significance Familial adenomatous polyposis 3 2024-03-13 criteria provided, single submitter clinical testing

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