ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.848G>A (p.Ser283Asn)

dbSNP: rs1784307166
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191699 SCV001359596 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001191699 SCV002675370 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-12 criteria provided, single submitter clinical testing The p.S283N variant (also known as c.848G>A), located in coding exon 8 of the PMS2 gene, results from a G to A substitution at nucleotide position 848. The serine at codon 283 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly 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.

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