ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.80A>G (p.Glu27Gly)

gnomAD frequency: 0.00002  dbSNP: rs762937286
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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 RCV001054038 SCV001218331 uncertain significance not provided 2025-01-30 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 35 of the NTHL1 protein (p.Glu35Gly). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 849971). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The glycine 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.
Ambry Genetics RCV003160427 SCV003861433 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-05 criteria provided, single submitter clinical testing The p.E35G variant (also known as c.104A>G), located in coding exon 1 of the NTHL1 gene, results from an A to G substitution at nucleotide position 104. The glutamic acid at codon 35 is replaced by glycine, an amino acid with 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.
Baylor Genetics RCV003467774 SCV004192164 uncertain significance Familial adenomatous polyposis 3 2023-06-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001054038 SCV004702294 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing

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