ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1844A>G (p.Gln615Arg)

dbSNP: rs1895978967
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349441 SCV001543786 uncertain significance Bloom syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 615 of the BLM protein (p.Gln615Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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. 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154008 SCV003843290 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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