ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4091_4093GTG[1] (p.Gly1365del)

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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 RCV000779719 SCV000916480 uncertain significance not specified 2017-11-24 criteria provided, single submitter clinical testing Variant summary: The APC c.4094_4096delGTG (p.Gly1365del) variant leads to the in frame deletion of a single amino acid, that is not located in any known functional domain (InterPro). One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, though one tool predicts the disappearance of a cryptic splice site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 245744 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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