ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4400C>T (p.Ala1467Val)

dbSNP: rs2090531407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240632 SCV001413598 uncertain significance Tuberous sclerosis 2 2019-10-22 criteria provided, single submitter clinical testing 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 valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with TSC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1467 of the TSC2 protein (p.Ala1467Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Baylor Genetics RCV003462814 SCV004205118 uncertain significance Isolated focal cortical dysplasia type II 2022-07-12 criteria provided, single submitter clinical testing

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