ClinVar Miner

Submissions for variant NC_000005.10:g.112766352_112766353insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT

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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 RCV004572494 SCV003287610 pathogenic Familial adenomatous polyposis 1 2023-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 2076032). This variant has not been reported in the literature in individuals affected with APC-related conditions. This sequence change creates a premature translational stop signal (p.Ile55Phefs*10) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668).

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