Submissions for variant NM_017882.3(CLN6):c.486+8C>T

gnomAD frequency: 0.01234  dbSNP: rs149692285

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000675962	SCV000167769	benign	not provided	2018-12-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21990111, 27535533)
Eurofins Ntd Llc (ga)	RCV000116759	SCV000230371	benign	not specified	2016-05-17	criteria provided, single submitter	clinical testing
Invitae	RCV000228160	SCV000290388	benign	Neuronal ceroid lipofuscinosis	2022-11-04	criteria provided, single submitter	clinical testing
PreventionGenetics, PreventionGenetics	RCV000116759	SCV000313044	likely benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000675962	SCV000603088	benign	not provided	2020-02-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000228160	SCV001274723	uncertain significance	Neuronal ceroid lipofuscinosis	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Broad Institute Rare Disease Group, Broad Institute	RCV001258279	SCV001435204	benign	Agenesis of the corpus callosum with peripheral neuropathy		criteria provided, single submitter	research	The heterozygous c.486+8C>T variant in CLN6 has been identified in 3 individuals with neuronal ceroid lipofuscinosis, including 2 individuals with no other variants identified in CLN6 (PMID: 21990111), but has been identified in >2% of European (Finnish) chromosomes and 14 homozygotes by ExAC (http://gnomad.broadinstitue.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive neuronal ceroid lipofuscinosis.
Athena Diagnostics Inc	RCV000116759	SCV001475015	benign	not specified	2020-09-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000116759	SCV002050989	benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000675962	SCV002545288	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002336251	SCV002634902	benign	Inborn genetic diseases	2018-09-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genetic Services Laboratory, University of Chicago	RCV000116759	SCV000150735	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic	RCV000675962	SCV000801691	likely benign	not provided	2018-01-05	no assertion criteria provided	clinical testing
Translational Research Program on Neuronal Ceroid Lipofuscinosis, Center for the Study of Inborn Errors of Metabolism	RCV000678439	SCV000804306	pathogenic	Ceroid lipofuscinosis, neuronal, 6A		no assertion criteria provided	research	Late Infantile NCL