Submissions for variant NM_001042432.2(CLN3):c.768C>T (p.Thr256=)

gnomAD frequency: 0.00103  dbSNP: rs145967477

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000186619	SCV000111296	likely benign	not specified	2015-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000186619	SCV000167754	benign	not specified	2013-04-18	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	RCV000324671	SCV000396326	uncertain significance	Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082887	SCV000560159	benign	Neuronal ceroid lipofuscinosis	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000186619	SCV000594150	likely benign	not specified	2015-12-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711257	SCV000841591	benign	not provided	2018-03-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001027945	SCV001275647	uncertain significance	Neuronal ceroid lipofuscinosis 3	2018-01-12	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	RCV001027945	SCV001977427	benign	Neuronal ceroid lipofuscinosis 3	2021-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399470	SCV002674240	likely benign	Inborn genetic diseases	2017-09-08	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.
Natera, Inc.	RCV001027945	SCV001190675	benign	Neuronal ceroid lipofuscinosis 3	2019-05-20	no assertion criteria provided	clinical testing
Natera, Inc.	RCV001082887	SCV001452336	benign	Neuronal ceroid lipofuscinosis	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000186619	SCV001920972	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000711257	SCV001928197	likely benign	not provided		no assertion criteria provided	clinical testing