ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.875T>C (p.Leu292Pro)

dbSNP: rs45517138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV005252714 SCV005904224 uncertain significance Tuberous sclerosis 2 2023-09-20 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Missense variant In silico tool predictions suggest damaging effect of the variant on gene or gene product [REVEL: 0.89 (>=0.6, sensitivity 0.68 and specificity 0.92); 3Cnet: 0.77 (>=0.6, sensitivity 0.72 and precision 0.9)]. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with TSC2 related disorder (PMID: 9463313). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as VUS according to the recommendation of ACMG/AMP guideline.
Tuberous sclerosis database (TSC2) RCV000043200 SCV000067001 not provided Tuberous sclerosis syndrome no assertion provided curation

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