ClinVar Miner

Submissions for variant NC_000005.9:g.(?_80088542)_(80088673_?)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 RCV001385090 SCV001584814 pathogenic not provided 2020-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653). This variant has not been reported in the literature in individuals with MSH3-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 19 of the MSH3 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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