ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.672G>C (p.Lys224Asn)

dbSNP: rs748141595
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574446 SCV000670816 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-07 criteria provided, single submitter clinical testing The p.K224N variant (also known as c.672G>C), located in coding exon 6 of the PMS2 gene, results from a G to C substitution at nucleotide position 672. The lysine at codon 224 is replaced by asparagine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000574446 SCV000691096 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765965 SCV000897386 uncertain significance Mismatch repair cancer syndrome 1; Lynch syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV002528155 SCV003031463 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-07-25 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PMS2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 484292). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is present in population databases (rs748141595, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 224 of the PMS2 protein (p.Lys224Asn).

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