ClinVar Miner

Submissions for variant NM_012434.5(SLC17A5):c.606A>G (p.Ser202=)

gnomAD frequency: 0.05389  dbSNP: rs3757112
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000337769 SCV000464779 benign Salla disease 2018-01-12 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 Laboratory Services, Illumina RCV001095228 SCV000464780 benign Sialic acid storage disease, severe infantile type 2018-01-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001175430 SCV001338979 benign not specified 2020-03-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000337769 SCV001719100 benign Salla disease 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000337769 SCV001762572 benign Salla disease 2021-07-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001095228 SCV001762573 benign Sialic acid storage disease, severe infantile type 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000675825 SCV001865003 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675825 SCV000801547 benign not provided 2015-10-22 no assertion criteria provided clinical testing
Natera, Inc. RCV000337769 SCV002076735 benign Salla disease 2019-11-21 no assertion criteria provided clinical testing

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