Submissions for variant NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)

gnomAD frequency: 0.00116  dbSNP: rs199727787

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187050	SCV000240623	benign	not specified	2015-06-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000989148	SCV000560154	benign	Neuronal ceroid lipofuscinosis	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000187050	SCV000700766	likely benign	not specified	2016-11-16	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711259	SCV000841593	benign	not provided	2017-10-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314701	SCV000848102	likely benign	Inborn genetic diseases	2018-08-09	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.
SIB Swiss Institute of Bioinformatics	RCV000755716	SCV000883190	likely benign	Neuronal ceroid lipofuscinosis 5	2018-10-15	criteria provided, single submitter	curation	This variant is interpreted as Likely Benign, for Ceroid lipofuscinosis, neuronal, 5, autosomal recessive. The following ACMG Tag(s) were applied: BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.).
Mendelics	RCV000989148	SCV001139364	benign	Neuronal ceroid lipofuscinosis	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000711259	SCV001248433	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CLN5: BS1, BS2
Illumina Laboratory Services, Illumina	RCV000755716	SCV001269020	uncertain significance	Neuronal ceroid lipofuscinosis 5	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab	RCV000755716	SCV001977455	benign	Neuronal ceroid lipofuscinosis 5	2021-08-10	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000755716	SCV001460316	benign	Neuronal ceroid lipofuscinosis 5	2020-04-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000711259	SCV001739827	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000711259	SCV001808473	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000711259	SCV001968985	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977493	SCV004787183	benign	CLN5-related disorder	2019-07-22	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).