ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln)

gnomAD frequency: 0.00003  dbSNP: rs150437839
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799034 SCV000938681 uncertain significance not provided 2024-11-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 157 of the NTHL1 protein (p.Arg157Gln). This variant is present in population databases (rs150437839, gnomAD 0.02%). 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: 645021). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV000799034 SCV001875068 uncertain significance not provided 2025-01-15 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV002256512 SCV002528978 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-23 criteria provided, single submitter curation
Ambry Genetics RCV002256512 SCV002635844 likely benign Hereditary cancer-predisposing syndrome 2020-03-25 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 RCV003461109 SCV004192117 uncertain significance Familial adenomatous polyposis 3 2023-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003461109 SCV005642821 uncertain significance Familial adenomatous polyposis 3 2024-05-04 criteria provided, single submitter clinical testing

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