ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)

gnomAD frequency: 0.00245  dbSNP: rs28385141
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000989398 SCV000283138 benign Bloom syndrome 2021-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561636 SCV000672869 benign Hereditary cancer-predisposing syndrome 2018-07-02 criteria provided, single submitter clinical testing Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000120230 SCV000916683 likely benign not specified 2018-07-13 criteria provided, single submitter clinical testing Variant summary: BLM c.3613G>A (p.Val1205Ile) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00078 in 278434 control chromosomes in the gnomAD database and publications, including 1 homozygote. The observed variant frequency within African control individuals in the gnomAD database is approximately 2.3-fold of the estimated maximal expected allele frequency for a pathogenic variant in BLM causing Bloom Syndrome phenotype (0.0035), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. The variant, c.3613G>A, has not been reported in the literature in individuals affected with Bloom Syndrome and was reported in healthy controls (Bodian_2014). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Mendelics RCV000989398 SCV001139714 likely benign Bloom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000120230 SCV002071164 benign not specified 2021-03-05 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000561636 SCV002532511 benign Hereditary cancer-predisposing syndrome 2021-04-01 criteria provided, single submitter curation
ITMI RCV000120230 SCV000084377 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000989398 SCV001462154 benign Bloom syndrome 2020-06-01 no assertion criteria provided clinical testing

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