ClinVar Miner

Submissions for variant NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)

gnomAD frequency: 0.00073  dbSNP: rs145288025
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000333120 SCV000343125 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085971 SCV000428291 uncertain significance Biotin-responsive basal ganglia 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085971 SCV000639711 likely benign Biotin-responsive basal ganglia disease 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000333120 SCV001475513 uncertain significance not provided 2020-06-16 criteria provided, single submitter clinical testing
GeneDx RCV000333120 SCV001803361 uncertain significance not provided 2024-06-13 criteria provided, single submitter clinical testing Observed with another variant in the opposite allele (in trans) in patient with congenital diaphragmatic hernia, seizures, and dysmorphic features in published literature; however, a pathogenic variant in another gene was also identified (PMID: 37589195); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 37589195)

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