ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.375G>C (p.Leu125=)

dbSNP: rs1596220502
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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 RCV001506357 SCV001711278 likely benign not provided 2019-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324115 SCV002626190 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-14 criteria provided, single submitter clinical testing The c.399G>C variant (also known as p.L133L), located in coding exon 3 of the NTHL1 gene, results from a G to C substitution at nucleotide position 399. This nucleotide substitution does not change the leucine at codon 133. However, this change may have some effect on normal mRNA splicing. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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