ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) (rs2227935)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078058 SCV000109896 benign not specified 2013-03-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078058 SCV000301738 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000144575 SCV000394420 likely benign Bloom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000568944 SCV000672859 benign Hereditary cancer-predisposing syndrome 2016-08-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586013 SCV000694478 benign not provided 2016-08-31 criteria provided, single submitter clinical testing Variant summary: The BLM c.2603C>T (p.Pro868Leu) variant involves the alteration of a conserved nucleotide. 2/2 in silico tools predict a damaging outcome for this variant. This variant was found in 6732/120402 control chromosomes (223 homozygotes) at a frequency of 0.0559127, which is approximately 16 times the estimated maximal expected allele frequency of a pathogenic BLM variant (0.0035355), suggesting this variant is likely a benign polymorphism. Functional studies suggest partial loss of funciton (Mirzaei_2012, Shastri_2015), however the prevalence in the general population as well as numerous homozygous occurrences indicate this variant is insufficient for full-scale Bloom syndrome. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as benign.
ITMI RCV000078058 SCV000084373 not provided not specified 2013-09-19 no assertion provided reference population
Genetic Services Laboratory, University of Chicago RCV000078058 SCV000150444 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Pathway Genomics RCV000144575 SCV000189874 likely benign Bloom syndrome 2014-07-24 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000144575 SCV000733481 benign Bloom syndrome no assertion criteria provided clinical testing

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