ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6488A>T (p.Lys2163Ile) (rs1554087458)

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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 RCV000588775 SCV000694096 uncertain significance not provided 2017-07-21 criteria provided, single submitter clinical testing Variant summary: The c.6488A>T (p.Lys2163Ile) in APC gene is a missense variant involves a highly conserved nucleotide and 4/4 in silico tools predict deleterious outcome, however no functional studies supporting these predictions were published at the time of evaluation. The variant is located outside of any known functional domain or repeat. The c.6488A>T is absent from the control population datasets of ExAC and gnomAD (120056and 245562 chrs tested, respectively). To our knowledge, the variant has not been reported in affected individuals via published reports or cited by reputable databases/clinical laboratories. The variant was identified internally in one individual tested positive for a pathogenic variant, c.2161_2170delGGAAGTGCTG in APC gene. Taken together, the variant was classified as VUS-possibly benign, until new information becomes available.

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