ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2537del (p.Phe846fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002283947 SCV002573201 likely pathogenic 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 nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been shared with similarly affected sibling (3billion dataset) Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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