ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.661G>A (p.Ala221Thr)

dbSNP: rs1596219280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292862 SCV001481543 uncertain significance Familial adenomatous polyposis 3 2020-01-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002366111 SCV002665552 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-21 criteria provided, single submitter clinical testing The p.A229T variant (also known as c.685G>A), located in coding exon 4 of the NTHL1 gene, results from a G to A substitution at nucleotide position 685. The alanine at codon 229 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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