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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