ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002443426 SCV002682941 uncertain significance Hereditary cancer-predisposing syndrome 2020-05-21 criteria provided, single submitter clinical testing The p.N314K variant (also known as c.942T>A), located in coding exon 9 of the PMS2 gene, results from a T to A substitution at nucleotide position 942. The asparagine at codon 314 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Baylor Genetics RCV003471371 SCV004205488 uncertain significance Lynch syndrome 4 2023-08-08 criteria provided, single submitter clinical testing

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