Submissions for variant NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)

gnomAD frequency: 0.00817  dbSNP: rs112812685

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125589	SCV000169046	benign	not specified	2013-06-26	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.
Invitae	RCV000713859	SCV000284804	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625039	SCV000743597	benign	Neuronal ceroid lipofuscinosis 2	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625039	SCV000744907	benign	Neuronal ceroid lipofuscinosis 2	2015-11-23	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000713859	SCV000844497	benign	not provided	2018-02-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312568	SCV000846782	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina	RCV000625039	SCV001259519	likely benign	Neuronal ceroid lipofuscinosis 2	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.