ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1333C>G (p.Gln445Glu) (rs876658802)

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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 RCV000217057 SCV000274512 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585258 SCV000693182 uncertain significance not provided 2017-10-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000585258 SCV000693993 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing Variant summary: The APC c.1333C>G (p.Gln445Glu) variant causes a missense change involving the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). The variant of interest is absent in a large, broad control population, ExAC in 120462 control chromosomes. In addition, one clinical diagnostic laboratory classified this variant as uncertain significance. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; 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).
Color RCV000217057 SCV000904772 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing

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