ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) (rs763471784)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628643 SCV000749547 uncertain significance Bloom syndrome 2017-12-18 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 891 of the BLM protein (p.Gly891Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with Bloom syndrome (PMID: 17407155). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. In vitro experimental studies using recombinant BLM protein have shown that this missense change impairs the helicase and ATPase activities as well as the DNA binding ability of the BLM protein (PMID: 17878217). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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