ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.488_489del (p.Phe163fs) (rs137854122)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478381 SCV000566483 pathogenic not provided 2015-04-29 criteria provided, single submitter clinical testing The c.488_489delTT deletion in the TSC2 gene has been reported previously in association with tuberoussclerosis (Au et al., 1998; TSC2 LOVD). The deletion causes a frameshift starting with codon Phenylalanine163, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 25 of thenew reading frame, denoted p.Phe163CysfsX25. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. Therefore, we consider this variant to be pathogenic.
Invitae RCV000818975 SCV000959614 pathogenic Tuberous sclerosis 2 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe163Cysfs*25) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with tuberous sclerosis (PMID: 9463313, 17304050, 21520333, Invitae). ClinVar contains an entry for this variant (Variation ID: 49879). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic.
Tuberous sclerosis database (TSC2) RCV000043145 SCV000066944 not provided Tuberous sclerosis syndrome no assertion provided curation

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