ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.194G>A (p.Ser65Asn)

dbSNP: rs747885276
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000794751 SCV000934178 uncertain significance not provided 2023-09-29 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 641498). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. This variant is present in population databases (rs747885276, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 73 of the NTHL1 protein (p.Ser73Asn).
Ambry Genetics RCV002422698 SCV002725349 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-21 criteria provided, single submitter clinical testing The p.S73N variant (also known as c.218G>A), located in coding exon 2 of the NTHL1 gene, results from a G to A substitution at nucleotide position 218. The serine at codon 73 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.

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