ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1146T>G (p.Gly382=)

dbSNP: rs1554298091
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001449081 SCV001652186 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456759 SCV002615582 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-12 criteria provided, single submitter clinical testing The c.1146T>G variant (also known as p.G382G), located in coding exon 11 of the PMS2 gene, results from a T to G substitution at nucleotide position 1146. This nucleotide substitution does not change the amino acid at codon 382. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive and direct evidence is insufficient at this time (Ambry internal data). 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 RCV004699384 SCV005203467 uncertain significance not specified 2024-07-18 criteria provided, single submitter clinical testing

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