ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro)

dbSNP: rs397515206
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760985 SCV000890896 pathogenic Tuberous sclerosis 2 2018-04-10 criteria provided, single submitter clinical testing
Invitae RCV000760985 SCV001511918 uncertain significance Tuberous sclerosis 2 2020-06-04 criteria provided, single submitter clinical testing 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. This variant has been reported to affect TSC2 protein function (PMID: 22903760). This variant has been observed in individual(s) with suspected tuberous sclerosis complex (PMID: 22903760). ClinVar contains an entry for this variant (Variation ID: 65281). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 448 of the TSC2 protein (p.Leu448Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Genome-Nilou Lab RCV000760985 SCV002039536 likely pathogenic Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000055502 SCV000083724 not provided Tuberous sclerosis syndrome no assertion provided curation

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