ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del) (rs587782888)

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Total submissions: 4
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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 2018-01-04 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 deletion of 3 nucleotides at positions 4711 to 4713 and causes the removal of a highly-conserved aspartic acid residue at codon 1571. The deleted amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV000480821 SCV000570617 uncertain significance not provided 2016-06-13 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in APC is denoted c.4711_4713delGAT at the cDNA level and Asp1571del (D1571del) at the protein level. The normal sequence, with the bases that are deleted in braces, is TGAT[GAT]ATTG. This deletion of a single Aspartic Acid residue occurs at a position that is conserved across species and is located in the SAMP repeats/axin binding domain (Azzopardi 2008). This variant has been identified in at least one individual with a Lynch syndrome-associated cancer and/or polyps (Yurgelun 2015). 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 Asp1571del to be a variant of unknown significance.
Invitae RCV000540784 SCV000647534 uncertain significance Familial adenomatous polyposis 1 2020-10-15 criteria provided, single submitter clinical testing This variant, c.4711_4713delGAT, results in the deletion of 1 amino acid of the APC protein (p.Asp1571del), 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 an APC-related disease. ClinVar contains an entry for this variant (Variation ID: 143006). 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, this variant has uncertain impact on APC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV000132525 SCV000911472 likely benign Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing

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