Submissions for variant NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)

gnomAD frequency: 0.00029  dbSNP: rs137906617

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000725785	SCV000240599	uncertain significance	not provided	2022-01-05	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Eurofins Ntd Llc (ga)	RCV000725785	SCV000339352	uncertain significance	not provided	2016-02-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000300798	SCV000396337	uncertain significance	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086732	SCV000628929	likely benign	Neuronal ceroid lipofuscinosis	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317078	SCV000849607	uncertain significance	Inborn genetic diseases	2016-08-04	criteria provided, single submitter	clinical testing	The p.P81L variant (also known as c.242C>T), located in coding exon 4 of the CLN3 gene, results from a C to T substitution at nucleotide position 242. The proline at codon 81 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000791120	SCV000930394	uncertain significance	Progressive myoclonic epilepsy type 3	2022-12-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121029	SCV001279575	uncertain significance	Neuronal ceroid lipofuscinosis 3	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.
CeGaT Center for Human Genetics Tuebingen	RCV000725785	SCV001500077	uncertain significance	not provided	2020-08-01	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000725785	SCV001715146	uncertain significance	not provided	2022-04-25	criteria provided, single submitter	clinical testing	BS1
Genome-Nilou Lab	RCV001121029	SCV001977435	uncertain significance	Neuronal ceroid lipofuscinosis 3	2021-08-10	criteria provided, single submitter	clinical testing
New York Genome Center	RCV001121029	SCV002098006	uncertain significance	Neuronal ceroid lipofuscinosis 3	2020-05-15	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001086732	SCV001458288	uncertain significance	Neuronal ceroid lipofuscinosis	2017-04-21	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000725785	SCV001806974	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000725785	SCV001918082	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725785	SCV001971966	uncertain significance	not provided		no assertion criteria provided	clinical testing