ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5201_5202delinsGT (p.Lys1734Ser)

dbSNP: rs1765876709
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770702 SCV001508893 uncertain significance Familial adenomatous polyposis 1 2020-08-11 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change replaces lysine with serine at codon 1734 of the APC protein (p.Lys1734Ser). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and serine. This variant has not been reported in the literature in individuals with APC-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available").

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