ClinVar Miner

Submissions for variant NM_000535.6(PMS2):c.(?-1)_(*1_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708777 SCV000822224 pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variant is a large genomic deletion which encompasses exons 1-15 of the PMS2 gene (entire PMS2 gene). This is expected to result in a truncated, non-functional protein product. Truncating variants in the PMS2 are known to be pathogenic (PMID: 21376568, 24362816).This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).

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