ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2873T>A (p.Val958Glu)

dbSNP: rs1555423088
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556048 SCV000623293 uncertain significance Bloom syndrome 2019-12-07 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces valine with glutamic acid at codon 958 of the BLM protein (p.Val958Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid.

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