ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.254G>C (p.Arg85Thr) (rs141503266)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656776 SCV000149204 uncertain significance not provided 2014-02-20 criteria provided, single submitter clinical testing Single pathogenic variants in BLM have only recently been described in association with cancer predisposition and the risks are not well understood. This variant is denoted BLM c.254G>C at the cDNA level, p.Arg85Thr (R85T) at the protein level, and results in the change of an Arginine to a Threonine (AGG>ACG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BLM Arg85Thr was observed in multiple subpopulations, with the highest allele frequency of 0.3% (14/4396) in African Americans in the NHLBI Exome Sequencing Project. This variant is a semi-conservative substitution in which a positive polar amino acid is replaced with a neutral polar one, altering a position that is highly variable throughout evolution and is not located within a known functional domain. In silico analyses predict this variant to have a benign effect on protein structure and function. Based on currently available information, it is unclear whether BLM Arg85Thr is pathogenic or benign. We consider it to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and with single variants the BLM gene in general, remain unclear.
Invitae RCV000226920 SCV000283124 benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567093 SCV000672893 likely benign Hereditary cancer-predisposing syndrome 2019-04-28 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Mendelics RCV000226920 SCV000838944 likely benign Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000120239 SCV000855432 likely benign not specified 2017-06-30 criteria provided, single submitter clinical testing
ITMI RCV000120239 SCV000084387 not provided not specified 2013-09-19 no assertion provided reference population

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