ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.173C>T (p.Ala58Val) (rs17571)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000116853 SCV000168066 benign not specified 2013-10-08 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116853 SCV000227243 benign not specified 2015-01-02 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000116853 SCV000308522 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000625347 SCV000369570 likely benign Neuronal ceroid lipofuscinosis 10 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.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625347 SCV000745014 benign Neuronal ceroid lipofuscinosis 10 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675959 SCV000841679 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715749 SCV000846580 benign Seizures 2015-12-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000116853 SCV000150927 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,VU University Medical Center Amsterdam RCV000625347 SCV000745781 benign Neuronal ceroid lipofuscinosis 10 2017-09-15 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675959 SCV000801688 benign not provided 2015-10-26 no assertion criteria provided clinical testing

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