ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.386T>C (p.Met129Thr)

dbSNP: rs2150942480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257313 SCV002528968 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-15 criteria provided, single submitter curation
Ambry Genetics RCV002257313 SCV005019794 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-15 criteria provided, single submitter clinical testing The p.M137T variant (also known as c.410T>C), located in coding exon 3 of the NTHL1 gene, results from a T to C substitution at nucleotide position 410. The methionine at codon 137 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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