ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.-1C>A

gnomAD frequency: 0.00002  dbSNP: rs369681753
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218387 SCV000273513 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-04 criteria provided, single submitter clinical testing The c.-1C>A variant is located in the 5' untranslated region (5’ UTR) of the PMS2 gene. This variant results from a C to A substitution 1 base upstream from the first translated codon. This nucleotide position is well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000218387 SCV000903467 likely benign Hereditary cancer-predisposing syndrome 2016-02-25 criteria provided, single submitter clinical testing
GeneDx RCV001569697 SCV001793825 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Describes a nucleotide substitution 1 base pair upstream of the ATG translational start site of the PMS2 gene, occurring in the Kozak sequence, the conserved nucleotides just upstream of the ATG start codon, which play a major role in the initiation of translation; This variant is associated with the following publications: (PMID: 27535533)

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