ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.554G>C (p.Ser185Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002359759 SCV002653051 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-13 criteria provided, single submitter clinical testing The p.S193T variant (also known as c.578G>C), located in coding exon 4 of the NTHL1 gene, results from a G to C substitution at nucleotide position 578. The serine at codon 193 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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.

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