ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4989G>C (p.Lys1663Asn)

dbSNP: rs1567124948
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226737 SCV001399061 uncertain significance Tuberous sclerosis 2 2019-09-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TSC2-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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with asparagine at codon 1663 of the TSC2 protein (p.Lys1663Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant also falls at the last nucleotide of exon 38 of the TSC2 coding sequence, which is part of the consensus splice site for this exon.

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