ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5211_5214del (p.Lys1739fs)

dbSNP: rs137854408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283448 SCV002573323 uncertain significance Tuberous sclerosis 2 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Frameshift variant is predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with TSC2-related disorder (PMID: 10205261). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.
Tuberous sclerosis database (TSC2) RCV000042714 SCV000066509 not provided Tuberous sclerosis syndrome no assertion provided curation

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