ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2716T>G (p.Ser906Ala) (rs786204146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168132 SCV000218791 uncertain significance Familial adenomatous polyposis 1 2014-11-01 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 906 of the APC protein (p.Ser906Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine. This sequence change has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not expected to impact protein function and the primary cause of disease in this individual is due to a pathogenic sequence change in APC at a different position, the evidence is insufficient at this time for a more conclusive classification. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000168132 SCV000488397 uncertain significance Familial adenomatous polyposis 1 2016-03-22 criteria provided, single submitter clinical testing

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