Submissions for variant NM_001909.5(CTSD):c.1215C>A (p.Gly405=)

gnomAD frequency: 0.01277  dbSNP: rs138733377

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229710	SCV000287209	benign	Neuronal ceroid lipofuscinosis	2025-02-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116852	SCV000308521	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625067	SCV000369550	benign	Neuronal ceroid lipofuscinosis 10	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625067	SCV000743665	benign	Neuronal ceroid lipofuscinosis 10	2015-07-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312083	SCV000846615	benign	Inborn genetic diseases	2016-05-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV000675948	SCV001833903	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000675948	SCV005322024	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116852	SCV000150926	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000625067	SCV000745771	likely benign	Neuronal ceroid lipofuscinosis 10	2016-07-20	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675948	SCV000801677	likely benign	not provided	2017-04-25	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000116852	SCV001808125	benign	not specified		no assertion criteria provided	clinical testing