ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.1215C>A (p.Gly405=) (rs138733377)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229710 SCV000287209 benign Neuronal ceroid lipofuscinosis 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116852 SCV000308521 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 RCV000715784 SCV000846615 benign Seizures 2016-05-15 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.
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

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