ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3733A>T (p.Thr1245Ser)

dbSNP: rs1555424403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545255 SCV000623315 uncertain significance Bloom syndrome 2017-01-12 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 1245 of the BLM protein (p.Thr1245Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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