ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4661A>C (p.Gln1554Pro)

dbSNP: rs45473296
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003511994 SCV004296677 uncertain significance Tuberous sclerosis 2 2023-05-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 49866). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This missense change has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 17304050; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1554 of the TSC2 protein (p.Gln1554Pro).
Tuberous sclerosis database (TSC2) RCV000043132 SCV000066931 not provided Tuberous sclerosis syndrome no assertion provided curation

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