ClinVar Miner

Submissions for variant NC_000007.14:g.(?_5991973)_(6006031_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000462873 SCV000564007 pathogenic Lynch syndrome 2016-09-05 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-9 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Gross deletions and loss-of-function variants in PMS2 are known to be pathogenic. This particular variant has been reported in an individual who underwent genetic testing for PMS2-related hereditary cancer (PMID: 26320870). For these reasons, this variant has been classified as Pathogenic.

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