ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6811_6813del (p.Pro2271del) (rs786203391)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166674 SCV000217482 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000463905 SCV000552530 uncertain significance Familial adenomatous polyposis 1 2018-12-28 criteria provided, single submitter clinical testing This variant, c.6811_6813delCCT, results in the deletion of 1 amino acid of the APC protein (p.Pro2271del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs761567827, 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: 186999). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted 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 RCV000485036 SCV000564581 uncertain significance not provided 2017-04-12 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in APC is denoted c.6811_6813delCCT at the cDNA level and p.Pro2271del at the protein level. The normal sequence, with the bases that are deleted in brackets, is TTCT[delCCT]AGAG. This deletion of a single Proline residue occurs at a position that is conserved across species and is located in the basic domain (Azzopardi 2008). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. 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 Pro2271del to be a variant of uncertain significance.

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