ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5381A>T (p.Asp1794Val)

gnomAD frequency: 0.00001  dbSNP: rs1490241563
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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 RCV004568970 SCV000647582 uncertain significance Familial adenomatous polyposis 1 2023-08-16 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 470003). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1794 of the APC protein (p.Asp1794Val).
GeneDx RCV004592590 SCV005079665 uncertain significance not provided 2023-06-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27397505, 18199528)
Ambry Genetics RCV004943986 SCV005460599 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-28 criteria provided, single submitter clinical testing The p.D1794V variant (also known as c.5381A>T), located in coding exon 15 of the APC gene, results from an A to T substitution at nucleotide position 5381. The aspartic acid at codon 1794 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence, the clinical significance of this variant remains unclear.

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