ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1152del (p.Gly385fs) (rs118203501)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189873 SCV000243526 pathogenic not provided 2014-09-19 criteria provided, single submitter clinical testing c.1152delA: p.Gly385GlufsX55 (G385EfsX55) in exon 12 of the TSC1 gene (NM_000368.4). The normal sequence with the base that is deleted in braces is: GAAA{A}GGAA. The c.1152delA mutation in the TSC1 gene causes a frameshift starting with codon Glycine 385, changes this amino acid to a Glutamic acid residue and creates a premature Stop codon at position 55 of the new reading frame, denoted p.Gly385GlufsX55. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1152delA mutation has been reported as pathogenic in an external database and other frameshift mutations have been reported in the TSC1 gene in association with tuberous sclerosis complex (TSC). Therefore, the presence of the c.1152delA mutation is consistent with a diagnosis of tuberous sclerosis complex. The variant is found in EPILEPSY panel(s).
Tuberous sclerosis database (TSC1) RCV000041995 SCV000065775 not provided Tuberous sclerosis syndrome no assertion provided curation

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