ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1015A>G (p.Lys339Glu)

dbSNP: rs1596223833
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823664 SCV000964532 uncertain significance Bloom syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 339 of the BLM protein (p.Lys339Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002336724 SCV002637275 likely benign Hereditary cancer-predisposing syndrome 2022-09-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000823664 SCV002090000 uncertain significance Bloom syndrome 2020-11-25 no assertion criteria provided clinical testing

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