ClinVar Miner

Submissions for variant NM_005883.3(APC2):c.849G>A (p.Leu283=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003397674 SCV004105807 uncertain significance APC2-related disorder 2023-06-06 criteria provided, single submitter clinical testing The APC2 c.849G>A variant is not predicted to result in an amino acid change (p.=). This variant is predicted to possibly create a cryptic donor splice site within the exon (Alamut Visual Plus v1.6.1). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.084% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-1456884-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV005104346 SCV005769511 likely benign not provided 2024-05-21 criteria provided, single submitter clinical testing

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