ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4834G>A (p.Asp1612Asn) (rs886051795)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000330059 SCV000395659 uncertain significance Tuberous sclerosis syndrome 2016-06-14 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415620 SCV000493814 uncertain significance Tuberous sclerosis 2 2015-09-26 criteria provided, single submitter clinical testing
Invitae RCV000415620 SCV000544316 uncertain significance Tuberous sclerosis 2 2017-05-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1612 of the TSC2 protein (p.Asp1612Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333) in an individual with tuberous sclerosis complex (TSC), as well as other family members, though their disease status is not noted in this database. ClinVar contains an entry for this variant (Variation ID: 318332). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on TSC2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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