ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1145-5C>T

dbSNP: rs267608157
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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 RCV001017451 SCV001178534 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-22 criteria provided, single submitter clinical testing The c.1145-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 11 in the PMS2 gene. This alteration has been reported in a study of 99 probands diagnosed with Lynch syndrome-associated tumors showing isolated loss of PMS2 by immunohistochemistry (Senter L et al. Gastroenterology, 2008 Aug;135:419-28). This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001017451 SCV001353140 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-23 criteria provided, single submitter clinical testing
Invitae RCV001414589 SCV001616728 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-03-30 criteria provided, single submitter clinical testing

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