ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1319A>G (p.Glu440Gly)

dbSNP: rs1567040910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686664 SCV000814192 uncertain significance Bloom syndrome 2023-10-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 440 of the BLM protein (p.Glu440Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 566762). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM 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 RCV001010964 SCV001171234 uncertain significance Hereditary cancer-predisposing syndrome 2021-02-12 criteria provided, single submitter clinical testing The p.E440G variant (also known as c.1319A>G), located in coding exon 6 of the BLM gene, results from an A to G substitution at nucleotide position 1319. The glutamic acid at codon 440 is replaced by glycine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. 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. RCV000686664 SCV002090030 uncertain significance Bloom syndrome 2021-06-01 no assertion criteria provided clinical testing

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