ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3831ATC[1] (p.Ser1279del)

dbSNP: rs1257663822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003462857 SCV001485790 uncertain significance Familial adenomatous polyposis 1 2024-06-21 criteria provided, single submitter clinical testing This variant, c.3834_3836del, results in the deletion of 1 amino acid(s) of the APC protein (p.Ser1279del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 1000658). 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.
Ambry Genetics RCV002357084 SCV002623260 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-08 criteria provided, single submitter clinical testing The c.3834_3836delATC variant (also known as p.S1279del) is located in coding exon 15 of the APC gene. This variant results from an in-frame ATC deletion at nucleotide positions 3834 to 3836. This results in the in-frame deletion of a serine at codon 1279. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003462857 SCV004195828 uncertain significance Familial adenomatous polyposis 1 2023-10-18 criteria provided, single submitter clinical testing

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