ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.725C>G (p.Pro242Arg) (rs1060500642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458587 SCV000543361 uncertain significance Bloom syndrome 2016-12-13 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 242 of the BLM protein (p.Pro242Arg). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BLM-related disease. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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