ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) (rs546989392)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000613275 SCV000790075 likely pathogenic Ceroid lipofuscinosis neuronal 5 2017-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000613275 SCV000733368 likely pathogenic Ceroid lipofuscinosis neuronal 5 no assertion criteria provided clinical testing
Fulgent Genetics,Fulgent Genetics RCV000613275 SCV000893332 pathogenic Ceroid lipofuscinosis neuronal 5 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000187069 SCV000240644 pathogenic not provided 2015-01-09 criteria provided, single submitter clinical testing p.Arg199Ter (CGA>TGA): c.595 C>T in exon 3 of the CLN5 gene (NM_006493.2) The R199X nonsense mutation in the CLN5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Homozygosity for the R199X mutation is consistent with a diagnosis of neuronal ceroid lipofuscinosis (NCL). The variant is found in EPILEPSY,PME-EPI panel(s).
Invitae RCV000556663 SCV000628964 pathogenic Neuronal ceroid lipofuscinosis 2018-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 199 (p.Arg199*) of the CLN5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN5 are known to be pathogenic. This particular variant has been reported in the literature in a cohort of individuals affected with neuronal ceroid lipofuscinosis (PMID: 23374165, Invitae). For these reasons, this variant has been classified as Pathogenic.

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