ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) (rs139610577)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000656782 SCV000149200 uncertain significance not provided 2013-12-24 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.2333C>G at the cDNA level and p.Ser778Cys (S778C) at the protein level, and results in the change of a Serine to a Cysteine (TCT>TGT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BLM Ser778Cys was not observed at significant allele frequency in the NHLBI Exome Sequencing Project. This variant is a non-conservative amino acid substitution, altering a position that is fully conserved throughout evolution, and is located in the ATP-helicase binding domain. Multiple in silico algorithms predict that this variant may be damaging to protein structure and function. 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 RCV001080005 SCV000283123 benign Bloom syndrome 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000115291 SCV000593635 uncertain significance not specified 2016-11-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562292 SCV000672906 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV001080005 SCV001279005 uncertain significance Bloom syndrome 2017-10-04 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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