ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2587_2589del (p.Tyr863del)

dbSNP: rs1554084281
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565138 SCV000672592 likely benign Hereditary cancer-predisposing syndrome 2022-10-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000565138 SCV000686899 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004562478 SCV002118679 uncertain significance Familial adenomatous polyposis 1 2024-08-31 criteria provided, single submitter clinical testing This variant, c.2587_2589del, results in the deletion of 1 amino acid(s) of the APC protein (p.Tyr863del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 485149). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV004562478 SCV005052111 uncertain significance Familial adenomatous polyposis 1 2024-03-06 criteria provided, single submitter clinical testing

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