ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.214G>T (p.Glu72Ter) (rs104894483)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000492979 SCV000582305 pathogenic not provided 2017-05-11 criteria provided, single submitter clinical testing The E72X nonsense variant in the CLN6 gene has been reported previously in the homozygous state in association with variant late-infantile neuronal ceroid lipofuscinosis (Gao et al., 2002; Wheeler et al., 2002). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Other nonsense variants downstream in the CLN6 gene have been reported in association with variant late-infantile neuronal ceroid lipofuscinosis (Stenson et al., 2014). Therefore, we interpret E72X as a pathogenic variant.
Counsyl RCV000004292 SCV000798501 pathogenic Neuronal ceroid lipofuscinosis 6 2018-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719063 SCV000849927 pathogenic Seizures 2016-11-02 criteria provided, single submitter clinical testing Other acmg-defined mutation (i.e. initiation codon or gross deletion);Detected in individual(s) satisfying established diagnostic criteria for classic disease in trans with a mutation or mutation is homozygous
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000492979 SCV000859175 pathogenic not provided 2018-01-10 criteria provided, single submitter clinical testing
Invitae RCV001067723 SCV001232795 pathogenic Neuronal ceroid lipofuscinosis 2019-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu72*) in the CLN6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs104894483, ExAC 0.002%). This variant has been observed in individuals affected with late-infantile neuronal ceroid lipofuscinosis (PMID: 11727201, 11791207, 12815591). This variant is also known as G317T in the literature. ClinVar contains an entry for this variant (Variation ID: 4077). Loss-of-function variants in CLN6 are known to be pathogenic (PMID: 19135028). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004292 SCV000024458 pathogenic Neuronal ceroid lipofuscinosis 6 2002-02-01 no assertion criteria provided literature only
GeneReviews RCV000004292 SCV000086972 pathologic Neuronal ceroid lipofuscinosis 6 2013-08-01 no assertion criteria provided curation Converted during submission to Pathogenic.

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