ClinVar Miner

Submissions for variant NM_006493.4(CLN5):c.-4C>T

gnomAD frequency: 0.00009  dbSNP: rs587780896
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124330 SCV000167759 benign not specified 2013-05-29 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.
Illumina Laboratory Services, Illumina RCV000360042 SCV000384721 uncertain significance Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711258 SCV000841592 likely benign not provided 2018-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316354 SCV000851216 likely benign Inborn genetic diseases 2016-09-01 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.
Invitae RCV001081887 SCV001003102 benign Neuronal ceroid lipofuscinosis 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111457 SCV001269017 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV001111457 SCV001653450 likely benign Neuronal ceroid lipofuscinosis 5 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001111457 SCV001460314 benign Neuronal ceroid lipofuscinosis 5 2020-04-16 no assertion criteria provided clinical testing

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