ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg) (rs45517338)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475080 SCV000544480 uncertain significance Tuberous sclerosis 2 2018-06-06 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 1450 of the TSC2 protein (p.Pro1450Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is present in population databases (rs45517338, ExAC 0.04%). This variant has not been reported in the literature in individuals with TSC2-related disease. ClinVar contains an entry for this variant (Variation ID: 49293). 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: "Deleterious"; PolyPhen-2: "Probably 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.
Ambry Genetics RCV000562910 SCV000675542 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000713934 SCV000844581 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000042552 SCV000066346 not provided Tuberous sclerosis syndrome no assertion provided curation

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