ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2419_2421GAT[1] (p.Asp808del) (rs587781469)

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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 RCV000129411 SCV000184180 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000465592 SCV000552533 uncertain significance Familial adenomatous polyposis 1 2018-09-14 criteria provided, single submitter clinical testing This variant, c.2422_2424delGAT, results in the deletion of 1 amino acid of the APC protein (p.Asp808del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779294628, ExAC 0.006%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 141067). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid 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.
GeneDx RCV000477999 SCV000571541 uncertain significance not provided 2016-08-30 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in APC is denoted c.2422_2424delGAT at the cDNA level and p.Asp808del (D808del) at the protein level. The normal sequence, with the bases that are deleted in braces, is TGAT[GAT]AATA. This deletion of a single Aspartic Acid residue occurs at a position where amino acids with properties similar to Aspartic Acid are tolerated across species and is not located in a known functional domain. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider APC Asp808del to be a variant of uncertain significance.
Color RCV000129411 SCV000681522 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing

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