ClinVar Miner

Submissions for variant NC_000002.11:g.(?_47656871)_(47705668_?)dup

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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 RCV001987020 SCV002278818 likely pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-18 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. A similar copy number variant has been observed in individual(s) with Lynch syndrome (PMID: 23595612). This variant results in a copy number gain of the genomic region encompassing exon(s) 7-14 of the MSH2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be out-of-frame, and may result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816).

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