ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)

gnomAD frequency: 0.00059  dbSNP: rs146505280
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001162886 SCV001324865 likely benign Maturity-onset diabetes of the young type 11 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.
Mendelics RCV002249457 SCV002518102 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV002305535 SCV002599729 uncertain significance not provided 2022-10-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31101814, Gven_2018_ABSTRACT, 31264968)
Fulgent Genetics, Fulgent Genetics RCV001162886 SCV002800216 likely benign Maturity-onset diabetes of the young type 11 2021-07-21 criteria provided, single submitter clinical testing
Invitae RCV002305535 SCV003263764 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Carola Vinuesa Lab, John Curtin School of Medical Research RCV000758186 SCV000886651 pathogenic Systemic lupus erythematosus no assertion criteria provided research

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