ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.574T>G (p.Tyr192Asp)

dbSNP: rs2084300211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001053550 SCV001217818 uncertain significance not provided 2024-09-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 200 of the NTHL1 protein (p.Tyr200Asp). This variant is not present in population databases (gnomAD no frequency). 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: 849554). 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 disruptive. 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 RCV002355039 SCV002658764 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-03 criteria provided, single submitter clinical testing The p.Y200D variant (also known as c.598T>G), located in coding exon 4 of the NTHL1 gene, results from a T to G substitution at nucleotide position 598. The tyrosine at codon 200 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV004553594 SCV001749379 not provided NTHL1-related disorder no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-25-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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