ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4918C>T (p.His1640Tyr) (rs45485092)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042053 SCV001205712 pathogenic Tuberous sclerosis 2 2020-01-02 criteria provided, single submitter clinical testing This sequence change replaces histidine with tyrosine at codon 1640 of the TSC2 protein (p.His1640Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. 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 complex (PMID: 12111193, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 49333). This variant has been reported to affect TSC2 protein function (PMID: 18854862, 21309039). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000042593 SCV000066387 not provided Tuberous sclerosis syndrome no assertion provided curation

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