ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.352dup (p.Val118fs) (rs137853982)

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Total submissions: 2
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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).
Tuberous sclerosis database (TSC2) RCV000042521 SCV000066312 not provided Tuberous sclerosis syndrome no assertion provided curation

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