ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.395G>C (p.Gly132Ala) (rs397514784)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000793584 SCV000932945 uncertain significance Tuberous sclerosis 1 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 132 of the TSC1 protein (p.Gly132Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). However, in that individual a pathogenic allele was also identified in TSC2, which suggests that this c.395G>C variant was not the primary cause of disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000999261 SCV001155805 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing

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