ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.3169G>A (p.Gly1057Ser) (rs587778727)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534056 SCV000641626 uncertain significance Tuberous sclerosis 1 2019-12-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 1057 of the TSC1 protein (p.Gly1057Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs587778727, ExAC 0.002%) but has not been reported in the literature in individuals with a TSC1-related disease. ClinVar contains an entry for this variant (Variation ID: 135369). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
ITMI RCV000122197 SCV000086416 not provided not specified 2013-09-19 no assertion provided reference population

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