ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.647T>C (p.Phe216Ser) (rs118203416)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641989 SCV000763641 uncertain significance Tuberous sclerosis 1 2019-01-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 216 of the TSC1 protein (p.Phe216Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with tuberous sclerosis (PMID: 21309039, 22867869), including at least one individual in which it was reported to arise de novo (PMID:21520333). ClinVar contains an entry for this variant (Variation ID: 49073). Experimental studies, in vitro, have shown that this missense change reduces the ability of TSC2 protein to inhibit the downstream TORC1 pathway (PMID: 21309039). 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 (TSC1) RCV000042326 SCV000066115 not provided Tuberous sclerosis syndrome no assertion provided curation

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