ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2605A>C (p.Lys869Gln)

dbSNP: rs1555422363
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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 RCV000628635 SCV000749539 uncertain significance Bloom syndrome 2017-11-07 criteria provided, single submitter clinical testing 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BLM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 869 of the BLM protein (p.Lys869Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine.

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