ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.760G>C (p.Glu254Gln)

dbSNP: rs181892828
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337367 SCV001530967 uncertain significance Bloom syndrome 2020-09-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with BLM-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 254 of the BLM protein (p.Glu254Gln). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and glutamine.

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