ClinVar Miner

Submissions for variant NM_000057.3(BLM):c.204C>A (p.Thr68=) (rs199927688)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000472138 SCV000794886 likely benign Bloom syndrome 2017-10-18 criteria provided, single submitter clinical testing
Invitae RCV000472138 SCV000543363 uncertain significance Bloom syndrome 2016-12-11 criteria provided, single submitter clinical testing This sequence change affects codon 68 of the BLM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BLM protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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