ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2803A>G (p.Ile935Val)

gnomAD frequency: 0.00001  dbSNP: rs774916971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016624 SCV001177596 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-18 criteria provided, single submitter clinical testing The p.I935V variant (also known as c.2803A>G), located in coding exon 13 of the BLM gene, results from an A to G substitution at nucleotide position 2803. The isoleucine at codon 935 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001052672 SCV001216894 uncertain significance Bloom syndrome 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 935 of the BLM protein (p.Ile935Val). This variant is present in population databases (rs774916971, gnomAD 0.003%). 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: 821821). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BLM protein function with a negative predictive value of 80%. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998547 SCV005624258 uncertain significance not provided 2023-11-10 criteria provided, single submitter clinical testing The BLM c.2803A>G (p.Ile935Val) variant has not been reported in individuals with BLM-related conditions in the published literature. The frequency of this variant in the general population, 0.000008 (2/251424 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.
Natera, Inc. RCV001052672 SCV002088120 uncertain significance Bloom syndrome 2018-09-29 no assertion criteria provided clinical testing

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