ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697977 SCV000826614 uncertain significance Bloom syndrome 2018-11-21 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 1121 of the BLM protein (p.Ser1121Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine. 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. 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: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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