ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1780G>A (p.Val594Met)

gnomAD frequency: 0.00001  dbSNP: rs1845623814
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001220593 SCV001392593 uncertain significance Tuberous sclerosis 1 2021-08-25 criteria provided, single submitter clinical testing 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 missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with TSC1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 594 of the TSC1 protein (p.Val594Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.

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