ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3252C>G (p.Asp1084Glu) (rs45517286)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229678 SCV000285337 uncertain significance Tuberous sclerosis 2 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 1084 of the TSC2 protein (p.Asp1084Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant was originally reported in an individual affected with tuberous sclerosis (TSC) (PMID: 9463313). However, follow-up analysis indicated that this patient did not have clinically diagnosed TSC and that this variant was present in the patient's unaffected father (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 49248). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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) RCV000042507 SCV000066298 not provided Tuberous sclerosis syndrome no assertion provided curation

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