ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.130C>G (p.His44Asp)

dbSNP: rs374988261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012077 SCV001172485 likely benign Hereditary cancer-predisposing syndrome 2024-03-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001040110 SCV001203667 uncertain significance not provided 2025-02-02 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 52 of the NTHL1 protein (p.His52Asp). This variant is present in population databases (rs374988261, gnomAD 0.003%). 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: 819488). 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 RCV001040110 SCV003931093 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with early-onset colorectal cancer (Toh et al., 2018); This variant is associated with the following publications: (PMID: 31360874)
Fulgent Genetics, Fulgent Genetics RCV005012443 SCV005642831 uncertain significance Familial adenomatous polyposis 3 2024-01-18 criteria provided, single submitter clinical testing

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