ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.1697del (p.Pro566fs) (rs118203563)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520621 SCV000617403 pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing The c.1697delC pathogenic variant in the TSC1 gene has been reported previously as c.1918delC due to the use of alternative nomenclature in association with tuberous sclerosis complex (TSC)(Yamashita et al., 2000; Dabora et al., 2001). The deletion causes a frameshift starting with codonProline 566, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 63 of the new reading frame, denoted p.Pro566LeufsX63. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.1697delC is not observed in large population cohorts (Lek et al, 2016). Therefore, the presence of c.1697delC is consistent with the diagnosis of TSC in this individual.
Center for Human Genetics, Inc RCV000660337 SCV000782387 pathogenic Tuberous sclerosis 1 2016-11-01 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC1) RCV000042065 SCV000065849 not provided Tuberous sclerosis syndrome no assertion provided curation

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