Submissions for variant NM_017882.3(CLN6):c.393_394CT[1] (p.Ser132fs) (rs774543080)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187113	SCV000240688	pathogenic	not provided	2015-03-28	criteria provided, single submitter	clinical testing	The c.395_396delCT frameshift mutation in the CLN6 gene has been reported as a homozygous mutation in an individual with a clinical diagnosis of variant late-infantile neuronal ceroid lipofuscinosis (vLINCL) and was subsequently identified in multiple other patients with vLINCL who harbored a second mutation on the other allele (Wheeler et al., 2002; gene specific database). The c.395_396delCT mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, based on the currently available information, we interpret c.395_396delCT to be a disease-causing mutation.
Invitae	RCV000465745	SCV000549216	pathogenic	Neuronal ceroid lipofuscinosis	2016-09-15	criteria provided, single submitter	clinical testing	This sequence change deletes 2 nucleotides in exon 4 of the CLN6 mRNA (c.395_396delCT), causing a frameshift at codon 132. This creates a premature translational stop signal (p.Ser132Cysfs*18) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLN6 are known to be pathogenic. This particular variant has been reported in the literature to occur as homozygous (PMID: 11727201) and as heterozygous with a second pathogenic variant (PMID: 19135028) in individuals with late-infantile neuronal ceroid lipofuscinosis. For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000004297	SCV000024463	pathogenic	Ceroid lipofuscinosis neuronal 6	2002-02-01	no assertion criteria provided	literature only

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