ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.381T>G (p.Thr127=)

gnomAD frequency: 0.01377  dbSNP: rs34481987
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116756 SCV000167763 benign not specified 2012-04-27 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.
PreventionGenetics,PreventionGenetics RCV000116756 SCV000311505 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000312256 SCV000384726 likely benign Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000476942 SCV000560157 benign Neuronal ceroid lipofuscinosis 2021-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716089 SCV000846922 benign Seizure 2016-04-14 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
Illumina Laboratory Services,Illumina RCV001113462 SCV001271237 benign Neuronal ceroid lipofuscinosis 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000116756 SCV002548414 benign not specified 2022-05-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116756 SCV000150731 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 RCV000675520 SCV000801211 benign not provided 2015-12-16 no assertion criteria provided clinical testing
Natera, Inc. RCV001113462 SCV001453814 benign Neuronal ceroid lipofuscinosis 5 2020-09-16 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000116756 SCV001809550 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000675520 SCV001931808 likely benign not provided no assertion criteria provided clinical testing

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