ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2858T>C (p.Ile953Thr) (rs587778102)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573639 SCV000672974 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
ITMI RCV000120228 SCV000084375 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000686394 SCV000813911 uncertain significance Bloom syndrome 2018-04-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 953 of the BLM protein (p.Ile953Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. 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. ClinVar contains an entry for this variant (Variation ID: 133699). 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: "Probably 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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