ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4603G>T (p.Asp1535Tyr)

dbSNP: rs45517353
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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 RCV000695774 SCV000824294 uncertain significance Tuberous sclerosis 2 2020-12-05 criteria provided, single submitter clinical testing This variant has been reported in an individual affected with tuberous sclerosis complex (PMID: 16981987). ClinVar contains an entry for this variant (Variation ID: 50016). This sequence change replaces aspartic acid with tyrosine at codon 1535 of the TSC2 protein (p.Asp1535Tyr). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and tyrosine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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) RCV000043284 SCV000067086 not provided Tuberous sclerosis syndrome no assertion provided curation

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