ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.-2C>T

dbSNP: rs876658209
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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 RCV000219116 SCV000273147 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-09 criteria provided, single submitter clinical testing The c.-2C>T variant is located in the 5' untranslated region (5’ UTR) of the PMS2 gene. This variant results from a C to T substitution 2 bases upstream from the first translated codon. This nucleotide position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000483583 SCV000570612 uncertain significance not provided 2022-01-12 criteria provided, single submitter clinical testing Describes a nucleotide substitution 2 base pairs upstream of the ATG translational start site, 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; Has not been previously published as pathogenic or benign to our knowledge; Has no predicted effect on splicing and nucleotide is not conserved across species; Not observed at significant frequency in large population cohorts (gnomAD)
Color Diagnostics, LLC DBA Color Health RCV000219116 SCV000906716 likely benign Hereditary cancer-predisposing syndrome 2016-07-18 criteria provided, single submitter clinical testing

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