ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3272A>G (p.His1091Arg) (rs750954124)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499533 SCV000593641 uncertain significance not specified 2017-03-13 criteria provided, single submitter clinical testing
Invitae RCV000226325 SCV000283135 uncertain significance Bloom syndrome 2018-09-17 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 1091 of the BLM protein (p.His1091Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs750954124, ExAC 0.002%). This variant has not been reported in the literature in individuals with BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 236814). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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