ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7105_7107del (p.Pro2369del) (rs1064794884)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485631 SCV000570152 uncertain significance not provided 2018-07-09 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in APC is denoted c.7105_7107delCCA at the cDNA level and p.Pro2369del (P2369del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ATCT[delCCA]GGTA. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. APC Pro2369del was not observed in large population cohorts (Lek 2016). This deletion of a single Proline residue is located in the Basic domain (Azzopardi 2008). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. 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 Pro2369del to be a variant of uncertain significance.
Invitae RCV000646379 SCV000768148 uncertain significance Familial adenomatous polyposis 1 2018-08-22 criteria provided, single submitter clinical testing This variant, c.7105_7107delCCA, results in the deletion of 1 amino acid of the APC protein (p.Pro2369del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 421065). 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.
Counsyl RCV000646379 SCV000785984 uncertain significance Familial adenomatous polyposis 1 2018-01-25 criteria provided, single submitter clinical testing

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