ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3007G>A (p.Asp1003Asn) (rs564314108)

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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 RCV000568678 SCV000672521 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000568678 SCV000681571 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-13 criteria provided, single submitter clinical testing
Invitae RCV000698576 SCV000827249 uncertain significance Familial adenomatous polyposis 1 2018-10-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1003 of the APC protein (p.Asp1003Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs564314108, ExAC 0.04%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 133525). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
ITMI RCV000120035 SCV000084167 not provided not specified 2013-09-19 no assertion provided reference population

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