ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4958C>T (p.Ser1653Phe) (rs45517383)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001242240 SCV001415311 uncertain significance Tuberous sclerosis 2 2019-10-29 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 1653 of the TSC2 protein (p.Ser1653Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of tuberous sclerosis (PMID: 15024740, 14756965). ClinVar contains an entry for this variant (Variation ID: 49336). This variant has been reported to 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) RCV000042596 SCV000066390 not provided Tuberous sclerosis syndrome no assertion provided curation

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