ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.309G>A (p.Val103=)

gnomAD frequency: 0.00618  dbSNP: rs142837989
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118359 SCV000171649 benign not specified 2013-11-26 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.
Eurofins Ntd Llc (ga) RCV000118359 SCV000229197 benign not specified 2014-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000118359 SCV000314607 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001083851 SCV000428304 likely benign Biotin-responsive basal ganglia disease 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001083851 SCV000639715 benign Biotin-responsive basal ganglia disease 2025-02-04 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000676553 SCV000843910 benign not provided 2017-09-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676553 SCV002544220 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing SLC19A3: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics RCV001083851 SCV002794560 likely benign Biotin-responsive basal ganglia disease 2021-09-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000676553 SCV005261228 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000118359 SCV000152759 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000676553 SCV000802339 benign not provided 2017-11-08 no assertion criteria provided clinical testing

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