ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.-5C>G

dbSNP: rs552723791
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000791629 SCV000930887 uncertain significance not provided 2024-09-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 7 of the NTHL1 protein (p.Ser7Cys). This variant is present in population databases (rs552723791, gnomAD 0.07%). 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: 638946). 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.
Sema4, Sema4 RCV002259015 SCV002528931 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-27 criteria provided, single submitter curation
Ambry Genetics RCV002259015 SCV002728341 likely benign Hereditary cancer-predisposing syndrome 2023-01-04 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.
GeneDx RCV000791629 SCV003805658 uncertain significance not provided 2022-08-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005012317 SCV005642839 uncertain significance Familial adenomatous polyposis 3 2024-01-23 criteria provided, single submitter clinical testing

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