ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1327G>A (p.Gly443Arg)

dbSNP: rs760470520
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071789 SCV001237110 uncertain significance Tuberous sclerosis 1 2022-03-29 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 864569). This variant has not been reported in the literature in individuals affected with TSC1-related conditions. This variant is present in population databases (rs760470520, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 443 of the TSC1 protein (p.Gly443Arg).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002307679 SCV002009249 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001071789 SCV002039275 uncertain significance Tuberous sclerosis 1 2021-11-07 criteria provided, single submitter clinical testing
GeneDx RCV002307679 SCV002601392 uncertain significance not provided 2022-05-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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