ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) (rs1567040469)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000779836 SCV000916676 likely pathogenic Bloom syndrome 2017-10-30 criteria provided, single submitter clinical testing Variant summary: The c.1090A>T (p.Arg364*) variant in BLM gene is a nonsense change that results in the loss of the ~1054 amino acids of BLM protein (~75%). This change is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant is absent from the large control population datasets of ExAC and gnomAD (~119228 and 246152 chrs tested, respectively). The c.1090A>T has been reported in at least one affected individual but has yet to be cited by reputable database/clinical laboratory. Other truncating variants, such as c.1284G>A (p.W428*) and c.1628T>A (p.L543*) have been reported in association with Bloom Syndrome. Taken together, the variant was classified as Likely Pathogenic.

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