ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2915G>T (p.Gly972Val) (rs150475674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820182 SCV000960883 uncertain significance Bloom syndrome 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 972 of the BLM protein (p.Gly972Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs150475674, ExAC 0.003%). This variant has not been reported in the literature in individuals with BLM-related disease. Experimental studies in vitro have shown that this missense change results in loss of the protein's ability to maintain genome stability (PMID: 23129629, 26788541). 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.
Ambry Genetics RCV001016923 SCV001177930 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-06 criteria provided, single submitter clinical testing Insufficient evidence

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