ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2742G>A (p.Lys914=)

dbSNP: rs137854877
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657885 SCV000779648 pathogenic not provided 2022-12-02 criteria provided, single submitter clinical testing Alters the last nucleotide of the exon and is predicted to destroy the splice donor site and result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 12015165)
Tuberous sclerosis database (TSC2) RCV000043370 SCV000067176 not provided Tuberous sclerosis syndrome no assertion provided curation

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