ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.974A>C (p.Lys325Thr)

gnomAD frequency: 0.00117  dbSNP: rs77401687
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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 RCV000319404 SCV000471348 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000504164 SCV000593629 likely benign not specified 2016-11-14 criteria provided, single submitter clinical testing
Invitae RCV001491840 SCV001696444 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001491840 SCV001988741 uncertain significance not provided 2019-04-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV001491840 SCV004164365 benign not provided 2022-10-01 criteria provided, single submitter clinical testing BLK: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003932494 SCV004755637 likely benign BLK-related disorder 2019-06-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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