ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.544A>G (p.Thr182Ala) (rs1060500643)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473044 SCV000543366 uncertain significance Bloom syndrome 2016-12-12 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 182 of the BLM protein (p.Thr182Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. 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. An experimental study has shown that this missense change results in a higher rate of chromosomal abnormalities during cell division (PMID: 26028025), however the clinical significance of these findings is unknown. In summary, this variant is a novel missense change that disrupts protein function in cell culture. It has been classified as a Variant of Uncertain Significance.

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