ClinVar Miner

Submissions for variant NM_000215.3(JAK3):c.2152G>C (p.Val718Leu) (rs146837396)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000625141 SCV000411105 uncertain significance Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 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.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625141 SCV000743863 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625141 SCV000745285 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2017-07-05 criteria provided, single submitter clinical testing
Invitae RCV000625141 SCV000761222 likely benign Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative 2019-12-31 criteria provided, single submitter clinical testing
ITMI RCV000121261 SCV000085432 not provided not specified 2013-09-19 no assertion provided reference population

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