ClinVar Miner

Submissions for variant NM_000038.6(APC):c.319T>G (p.Ser107Ala) (rs1485866385)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821613 SCV000962380 uncertain significance Familial adenomatous polyposis 1 2019-01-14 criteria provided, single submitter clinical testing This sequence change replaces serine with alanine at codon 107 of the APC protein (p.Ser107Ala). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related conditions. 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 and their clinical significance is uncertain. 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 RCV001019146 SCV001180469 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Insufficient evidence;Rarity in general population databases (dbsnp, esp, 1000 genomes)
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761076 SCV000890991 uncertain significance Acute megakaryoblastic leukemia 2016-06-10 no assertion criteria provided clinical testing

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