ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) (rs104894483)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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.
Invitae RCV000468908 SCV000560153 benign Neuronal ceroid lipofuscinosis 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000177296 SCV000612845 likely benign not specified 2016-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717893 SCV000848753 likely benign Seizures 2019-02-15 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Illumina Clinical Services Laboratory,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 Institute Rare Disease Group, Broad Institute RCV001258293 SCV001435227 benign Neuronal ceroid lipofuscinosis 4A 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573238 SCV001798796 likely benign not provided no assertion criteria provided clinical testing

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