Submissions for variant NM_017882.3(CLN6):c.214G>C (p.Glu72Gln)

gnomAD frequency: 0.00140  dbSNP: rs104894483

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177296	SCV000229141	likely benign	not specified	2015-11-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000177296	SCV000512646	benign	not specified	2017-12-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468908	SCV000560153	benign	Neuronal ceroid lipofuscinosis	2025-02-03	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000177296	SCV000612845	likely benign	not specified	2016-06-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314630	SCV000848753	likely benign	Inborn genetic diseases	2019-02-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Illumina Laboratory Services, Illumina	RCV000468908	SCV001276319	benign	Neuronal ceroid lipofuscinosis	2017-08-30	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001258293	SCV001435227	benign	Ceroid lipofuscinosis, neuronal, 6B (Kufs type)		criteria provided, single submitter	research	The heterozygous p.Glu72Gln variant in GLN6 has been identified in at least 1 Indian individual with late infantile neuronal ceroid lipofuscinosis (PMID: 12815591), but has also been identified in >1% of South Asian chromosomes and 4 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive late infantile neuronal ceroid lipofuscinosis.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000177296	SCV002547497	likely benign	not specified	2022-05-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573238	SCV004132740	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CLN6: BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573238	SCV001798796	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573238	SCV001931503	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000177296	SCV001971995	benign	not specified		no assertion criteria provided	clinical testing