ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.796A>G (p.Arg266Gly)

dbSNP: rs1895641246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066738 SCV001231755 uncertain significance Bloom syndrome 2023-03-31 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 860441). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 266 of the BLM protein (p.Arg266Gly).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001800952 SCV002046992 uncertain significance not specified 2021-04-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001066738 SCV002089971 uncertain significance Bloom syndrome 2021-05-06 no assertion criteria provided clinical testing

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