ClinVar Miner

Submissions for variant NC_000007.14:g.(?_6002443)_(6004068_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707985 SCV000837095 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-08-21 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3-5 of the PMS2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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