ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4925G>A (p.Gly1642Asp) (rs137854343)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238557 SCV001411376 uncertain significance Tuberous sclerosis 2 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 1642 of the TSC2 protein (p.Gly1642Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with tuberous sclerosis complex or epilepsy (PMID: 28087349, 30024541, 22867869). This variant is also known as G1619D in the literature. ClinVar contains an entry for this variant (Variation ID: 49978). This variant has been reported to affect TSC2 protein function (PMID: 21309039). 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.
Tuberous sclerosis database (TSC2) RCV000043245 SCV000067046 not provided Tuberous sclerosis syndrome no assertion provided curation

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