ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2983T>C (p.Tyr995His) (rs142723411)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628665 SCV000749570 uncertain significance Bloom syndrome 2018-08-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 995 of the BLM protein (p.Tyr995His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BLM-related disease. An experimental study in yeast has shown that this missense change does not alter BLM protein function (PMID: 23129629). 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.

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