ClinVar Miner

Submissions for variant NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) (rs1049402)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249303 SCV000308669 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000986124 SCV000468629 benign Charcot-Marie-Tooth disease type 2D 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.
Illumina Clinical Services Laboratory,Illumina RCV000396526 SCV000468630 benign Distal hereditary motor neuronopathy type 5 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.
Illumina Clinical Services Laboratory,Illumina RCV000305283 SCV000468631 benign Distal spinal muscular atrophy 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.
Athena Diagnostics Inc RCV000249303 SCV000677303 benign not specified 2021-05-03 criteria provided, single submitter clinical testing
Invitae RCV000340289 SCV001000047 benign Charcot-Marie-Tooth disease, type 2 2020-12-03 criteria provided, single submitter clinical testing
Mendelics RCV000986124 SCV001135018 benign Charcot-Marie-Tooth disease type 2D 2019-05-28 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001172984 SCV001336059 benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000986124 SCV001933720 benign Charcot-Marie-Tooth disease type 2D 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000396526 SCV001933721 benign Distal hereditary motor neuronopathy type 5 2021-08-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001701897 SCV001933722 benign Spinal muscular atrophy, infantile, James type 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000676705 SCV001945819 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676705 SCV000802504 benign not provided 2016-02-15 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000249303 SCV001744144 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000249303 SCV001922457 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000249303 SCV001955014 benign not specified no assertion criteria provided clinical testing

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