ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2965T>C (p.Cys989Arg)

dbSNP: rs1555423112
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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 RCV000544576 SCV000623295 uncertain significance Bloom syndrome 2017-05-24 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on BLM function. The available evidence is currently insufficient to determine its role 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 a BLM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 989 of the BLM protein (p.Cys989Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.

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