ClinVar Miner

Submissions for variant NM_000038.6(APC):c.234T>G (p.Asp78Glu) (rs765434321)

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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 RCV000587191 SCV000694012 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing Variant summary: The APC c.234T>G (p.Asp78Glu) variant involves the alteration of a non-conserved nucleotide and 3/3 in silico tools (SNPs&Go and Mutation Taster not captured here due to low reliability index and p-value, respectively) predict a benign outcome, although these predictions have yet to be functionally assessed. The variant of interest was not observed in the large, broad control population, ExAC, 0/120598 control chromosomes. 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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