ClinVar Miner

Submissions for variant NM_000057.3(BLM):c.419A>G (p.Glu140Gly) (rs35886055)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570211 SCV000672879 benign Hereditary cancer-predisposing syndrome 2016-09-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224918 SCV000281579 benign not provided 2014-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000120237 SCV000167182 benign not specified 2013-10-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000120237 SCV000084385 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000234547 SCV000394409 likely benign Bloom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000224918 SCV000694480 benign not provided 2016-08-31 criteria provided, single submitter clinical testing Variant summary: The BLM c.419A>G (p.Glu140Gly) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 351/121252 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0317352 (327/10304). This frequency is about 9 times the estimated maximal expected allele frequency of a pathogenic BLM variant (0.0035355), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, the variant is classified as benign.
Invitae RCV000234547 SCV000283149 benign Bloom syndrome 2017-12-27 criteria provided, single submitter clinical testing

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