Submissions for variant NM_001909.5(CTSD):c.231C>T (p.Ala77=)

gnomAD frequency: 0.06127  dbSNP: rs2230067

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116855	SCV000168070	benign	not specified	2013-05-26	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.
PreventionGenetics, part of Exact Sciences	RCV000116855	SCV000308524	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625345	SCV000369568	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625345	SCV000745012	benign	Neuronal ceroid lipofuscinosis 10	2015-09-21	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000675958	SCV000841680	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312085	SCV000846594	benign	Inborn genetic diseases	2016-03-14	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.
Invitae	RCV001517365	SCV001725845	benign	Neuronal ceroid lipofuscinosis	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000116855	SCV000150929	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	RCV000625345	SCV000745779	benign	Neuronal ceroid lipofuscinosis 10	2017-09-15	no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000675958	SCV000801687	benign	not provided	2015-10-26	no assertion criteria provided	clinical testing