ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1722A>G (p.Leu574=) (rs28385011)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000179705 SCV000167186 benign not specified 2013-10-04 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000179705 SCV000231996 likely benign not specified 2014-08-12 criteria provided, single submitter clinical testing
Invitae RCV000228415 SCV000283116 benign Bloom syndrome 2020-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571746 SCV000672865 likely benign Hereditary cancer-predisposing syndrome 2016-09-29 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000179705 SCV000918645 benign not specified 2017-12-25 criteria provided, single submitter clinical testing Variant summary: The c.1722A>G (p.Leu574=) in BLM gene is a synonymous change that involves a non-conserved nucleotide. 3/5 programs in Alamut predict that this variant does not affect splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control dataset of gnomAD at a frequency of 0.0062 (1384/223222 chrs tested, including 16 homozygotes), predominantly in individuals of South Asian descent (0.026; 475/18298 chrs). These frequencies exceed the estimated maximum allele frequency for a pathogenic allele in this gene (0.0035). The variant of interest has been reported as a polymorphism via published reports (German_2007), and is cited as Benign by a reputable databases/clinical laboratories. Taking together, the variant was classified as Benign.
Illumina Clinical Services Laboratory,Illumina RCV000228415 SCV001275085 benign Bloom syndrome 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.
Nilou-Genome Lab RCV000228415 SCV001750159 benign Bloom syndrome 2021-07-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000179705 SCV001807764 benign not specified no assertion criteria provided clinical testing

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