ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.859G>A (p.Val287Met)

gnomAD frequency: 0.00007  dbSNP: rs1042687
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001806758 SCV002051136 likely benign not specified 2021-12-15 criteria provided, single submitter clinical testing Variant summary: BLK c.859G>A (p.Val287Met) results in a conservative amino acid change located in the Protein kinase domain of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00028 in 251476 control chromosomes. The observed variant frequency is approximately 1837.15 fold of the estimated maximal expected allele frequency for a pathogenic variant in BLK causing Monogenic Diabetes phenotype (1.5e-07), strongly suggesting that the variant is benign. c.859G>A has been reported in the literature in an individual affected with Diabetes (Johansson_2017), without strong evidence for causality. This reports does not provide unequivocal conclusions about association of the variant with Monogenic Diabetes. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV002506840 SCV002804809 likely benign Maturity-onset diabetes of the young type 11 2022-01-01 criteria provided, single submitter clinical testing

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