ClinVar Miner

Submissions for variant NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) (rs137906617)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000725785 SCV000240599 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CLN3 gene. The P81L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The P81L variant is observed in 28/10152 (0.3%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The P81L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725785 SCV000339352 uncertain significance not provided 2016-02-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300798 SCV000396337 uncertain significance Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001086732 SCV000628929 likely benign Neuronal ceroid lipofuscinosis 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718743 SCV000849607 uncertain significance Seizures 2016-08-04 criteria provided, single submitter clinical testing Insufficient evidence
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785090 SCV000923645 uncertain significance not specified 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791120 SCV000930394 uncertain significance Epilepsy, progressive myoclonic 3 2019-04-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001121029 SCV001279575 uncertain significance Juvenile neuronal ceroid lipofuscinosis 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.

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