ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.547C>T (p.Gln183Ter) (rs869312751)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000210062 SCV000919232 pathogenic Neuronal ceroid lipofuscinosis 5 2018-11-02 criteria provided, single submitter clinical testing Variant summary: CLN5 c.694C>T (p.Gln232X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 246224 control chromosomes. c.694C>T has been reported in the literature in multiple homozygous individuals affected with Neuronal Ceroid-Lipofuscinosis (De Silva_2015, El Haddad_2012). These data indicate that the variant is very likely to be associated with disease. These papers also report loss of full-length protein via Western blot analysis from affected individuals fibroblasts. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000210062 SCV000265990 pathogenic Neuronal ceroid lipofuscinosis 5 2016-10-20 no assertion criteria provided literature only

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