ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3079T>G (p.Tyr1027Asp)

dbSNP: rs587781605
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506782 SCV000600074 uncertain significance not specified 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV003535799 SCV000936578 uncertain significance Familial adenomatous polyposis 1 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1027 of the APC protein (p.Tyr1027Asp). This variant is not present in population databases (gnomAD no frequency). 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: 438873). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function. 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 RCV002319511 SCV002608656 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-05 criteria provided, single submitter clinical testing The p.Y1027D variant (also known as c.3079T>G), located in coding exon 15 of the APC gene, results from a T to G substitution at nucleotide position 3079. The tyrosine at codon 1027 is replaced by aspartic acid, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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