ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)

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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 RCV002428420 SCV002728811 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-21 criteria provided, single submitter clinical testing The p.N749K variant (also known as c.2247T>G), located in coding exon 13 of the PMS2 gene, results from a T to G substitution at nucleotide position 2247. The asparagine at codon 749 is replaced by lysine, 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.
Myriad Genetics, Inc. RCV003454336 SCV004187632 likely pathogenic Lynch syndrome 4 2023-09-22 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. Functional studies indicate this variant impacts protein function [PMID: 35451539]. This variant is expected to disrupt protein structure [Myriad internal data].

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