ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del)

dbSNP: rs587782888
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132525 SCV000187622 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-24 criteria provided, single submitter clinical testing The c.4711_4713delGAT variant (also known as p.D1571del) is located in coding exon 15 of the APC gene. This variant results from an in-frame GAT deletion at nucleotide positions 4711 to 4713. This results in the in-frame deletion of an aspartic acid at codon 1571. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral 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.
GeneDx RCV000480821 SCV000570617 uncertain significance not provided 2019-04-30 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Variant located in the 20-aa repeat B-catenin down-regulating domain and the SAMP repeats/axin binding domain (Azzopardi 2008); This variant is associated with the following publications: (PMID: 25980754)
Invitae RCV003650399 SCV000647534 uncertain significance Familial adenomatous polyposis 1 2024-01-31 criteria provided, single submitter clinical testing This variant, c.4711_4713del, results in the deletion of 1 amino acid(s) of the APC protein (p.Asp1571del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs587782888, gnomAD 0.003%). 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: 143006). 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.
Color Diagnostics, LLC DBA Color Health RCV000132525 SCV000911472 likely benign Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing
Mendelics RCV002247511 SCV002516884 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002247511 SCV004024368 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV002514757 SCV004195815 uncertain significance Familial adenomatous polyposis 1 2023-10-18 criteria provided, single submitter clinical testing

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