ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.598G>A (p.Val200Ile) (rs118203410)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441826 SCV000533116 likely benign not specified 2018-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000687950 SCV000815545 uncertain significance Tuberous sclerosis 1 2018-03-12 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 200 of the TSC1 protein (p.Val200Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs118203410, ExAC 0.006%). This variant has been reported in an individual with tuberous sclerosis complex in the Leiden Open-source Variation Database, who also carried a pathogenic TSC1 variant on the same chromosome as a de novo variant (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49067). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Tuberous sclerosis database (TSC1) RCV000042320 SCV000066109 not provided Tuberous sclerosis syndrome no assertion provided curation

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