ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.754G>A (p.Ala252Thr)

dbSNP: rs1895638377
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238208 SCV001411007 uncertain significance Bloom syndrome 2019-09-02 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BLM-related conditions. This sequence change replaces alanine with threonine at codon 252 of the BLM protein (p.Ala252Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.

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