ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6131G>A (p.Ser2044Asn) (rs375743017)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476130 SCV000552443 uncertain significance Familial adenomatous polyposis 1 2018-07-11 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 2044 of the APC protein (p.Ser2044Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs375743017, ExAC 0.02%) but has not been reported in the literature in individuals with a APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000571749 SCV000676361 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000571749 SCV000681783 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-26 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733231 SCV000861272 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing

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