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

dbSNP: rs369681753

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000565632	SCV000663435	uncertain significance	Hereditary cancer-predisposing syndrome	2021-05-23	criteria provided, single submitter	clinical testing	The c.-1C>T variant is located in the 5' untranslated region (5’ UTR) of the PMS2 gene. This variant results from a C to T 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003987604	SCV004804493	uncertain significance	not specified	2024-01-02	criteria provided, single submitter	clinical testing	Variant summary: PMS2 c.-1C>T is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 250246 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.-1C>T in individuals affected with Prostate Cancer and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.