ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.352dup (p.Val118fs)

dbSNP: rs137853982
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000190065 SCV000243740 pathogenic not provided 2014-12-16 criteria provided, single submitter clinical testing c.352dupG: p.Val118GlyfsX8 (V118GfsX8) in exon 5 of the TSC2 gene (NM_000548.3) The normal sequence with the base that is duplicated in braces is: TGGGG{G}TCCTThe c.352dupG mutation in the TSC2 gene causes a frameshift starting with codon Valine 118, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Val118GlyfsX8. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, other frameshift mutations have been reported in the TSC2 gene in association with tuberous sclerosis (TSC2 LOVD). The variant is found in TUBSC-EPIV2-1 panel(s).
Invitae RCV001852879 SCV002148018 pathogenic Tuberous sclerosis 2 2021-11-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49262). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val118Glyfs*8) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050).
Ambry Genetics RCV002453338 SCV002614846 pathogenic Hereditary cancer-predisposing syndrome 2020-12-03 criteria provided, single submitter clinical testing The c.352dupG pathogenic mutation, located in coding exon 4 of the TSC2 gene, results from a duplication of G at nucleotide position 352, causing a translational frameshift with a predicted alternate stop codon (p.V118Gfs*8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Tuberous sclerosis database (TSC2) RCV000042521 SCV000066312 not provided Tuberous sclerosis syndrome no assertion provided curation

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