ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.578G>T (p.Gly193Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003402153 SCV004111867 uncertain significance NTHL1-related disorder 2023-02-23 criteria provided, single submitter clinical testing The NTHL1 c.602G>T variant is predicted to result in the amino acid substitution p.Gly201Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004362812 SCV005019768 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-14 criteria provided, single submitter clinical testing The p.G201V variant (also known as c.602G>T), located in coding exon 4 of the NTHL1 gene, results from a G to T substitution at nucleotide position 602. The glycine at codon 201 is replaced by valine, an amino acid with dissimilar 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 RCV004572968 SCV005053734 uncertain significance Familial adenomatous polyposis 3 2024-02-06 criteria provided, single submitter clinical testing

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