ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4079G>A (p.Gly1360Glu)

dbSNP: rs1258712808
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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 RCV001326137 SCV001517151 uncertain significance Bloom syndrome 2023-03-27 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1025777). 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 glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1360 of the BLM protein (p.Gly1360Glu).
Ambry Genetics RCV002322255 SCV002628217 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-08 criteria provided, single submitter clinical testing The p.G1360E variant (also known as c.4079G>A), located in coding exon 21 of the BLM gene, results from a G to A substitution at nucleotide position 4079. The glycine at codon 1360 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001326137 SCV002090650 uncertain significance Bloom syndrome 2020-09-15 no assertion criteria provided clinical testing

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