ClinVar Miner

Submissions for variant NM_000038.6(APC):c.566T>G (p.Leu189Trp) (rs1554072581)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587517 SCV000694081 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing Variant summary: The c.566T>G (p.Leu189Trp) in APC gene is a missense change that involves a highly conserved nucleotide and 5/5 in silico tools predict deleterious outcome. The variant of interest is located outside of any known functional domain and the functional impact of this missense change is yet to be studied. The variant is absent from the large control population dataset of ExAC and has not, to our knowledge, been reported in affected individual via published reports. In addition, one database cites the variant as VUS. At this time there is not sufficient undeniable evidence to classify this variant with confidence. Taken together, the variant was classified as VUS until more data becomes available.

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