ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8440A>G (p.Lys2814Glu) (rs756826512)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565114 SCV000667717 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000565114 SCV000681928 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779723 SCV000916484 uncertain significance not specified 2017-11-20 criteria provided, single submitter clinical testing Variant summary: The APC c.8440A>G (p.Lys2814Glu) variant located in the EB-1 binding domain (InterPro) involves the alteration of a conserved nucleotide and 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). However, these predictions have yet to be functionally assessed. This variant was found in 1/233178 control chromosomes (gnomAD) at a frequency of 0.0000043, which does not exceed the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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