ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1820C>A (p.Ala607Glu)

dbSNP: rs397515296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704074 SCV000833008 uncertain significance Tuberous sclerosis 2 2018-05-23 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. Experimental studies have shown that this missense change disrupts the ability of the TSC1–TSC2 complex to inhibit mTOR activity (PMID: 18854862, 21309039). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 64879). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with glutamic acid at codon 607 of the TSC2 protein (p.Ala607Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid.
Tuberous sclerosis database (TSC2) RCV000055079 SCV000083297 not provided Tuberous sclerosis syndrome no assertion provided curation

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