ClinVar Miner

Submissions for variant NM_014140.3(SMARCAL1):c.1196C>T (p.Thr399Met) (rs139872089)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000302549 SCV000427346 uncertain significance Schimke immuno-osseous dysplasia 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, 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000594612 SCV000702794 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV000302549 SCV000760096 likely benign Schimke immuno-osseous dysplasia 2020-12-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000302549 SCV001458570 likely benign Schimke immuno-osseous dysplasia 2019-12-18 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000302549 SCV001749629 not provided Schimke immuno-osseous dysplasia no assertion provided phenotyping only Variant interpreted as Likely benign and reported on 06-21-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
GeneDx RCV000594612 SCV001802365 uncertain significance not provided 2020-04-20 no assertion criteria provided clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function

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