ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.205G>A (p.Glu69Lys) (rs746195311)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673383 SCV000798580 uncertain significance Bloom syndrome 2018-03-19 criteria provided, single submitter clinical testing
Invitae RCV000673383 SCV000820385 uncertain significance Bloom syndrome 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 69 of the BLM protein (p.Glu69Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs746195311, ExAC 0.08%). This variant has been observed as homozygous in an individual affected with aplastic anemias (PMID: 27124789). ClinVar contains an entry for this variant (Variation ID: 191064). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000673383 SCV000845548 uncertain significance Bloom syndrome 2018-08-07 criteria provided, single submitter clinical testing
Mendelics RCV000673383 SCV001139689 uncertain significance Bloom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014270 SCV001174961 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-20 criteria provided, single submitter clinical testing Insufficient evidence
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171242 SCV000221439 likely pathogenic not provided no assertion criteria provided research

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