ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3097T>C (p.Tyr1033His) (rs137854404)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043250 SCV001206974 uncertain significance Tuberous sclerosis 2 2019-03-09 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 1033 of the TSC2 protein (p.Tyr1033His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with suspected tuberous sclerosis complex (PMID: 22903760). ClinVar contains an entry for this variant (Variation ID: 50040). This variant has been reported not to substantially affect TSC2 protein function (PMID: 22903760). 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) RCV000043306 SCV000067112 not provided Tuberous sclerosis syndrome no assertion provided curation

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