ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.736_737delinsGC (p.Lys246Ala)

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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 RCV003368198 SCV004056929 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-06 criteria provided, single submitter clinical testing The c.760_761delAAinsGC variant (also known as p.K254A), located in coding exon 5 of the NTHL1 gene, results from an in-frame deletion of AA and insertion of GC at nucleotide positions 760 to 761. This results in the substitution of the lysine residue for a alanine residue at codon 254, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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