ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.856G>T (p.Val286Phe)

dbSNP: rs758301305
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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 RCV000699392 SCV000828099 uncertain significance Bloom syndrome 2024-08-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 286 of the BLM protein (p.Val286Phe). This variant is present in population databases (rs758301305, gnomAD 0.0009%). 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: 576804). 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.
Ambry Genetics RCV002442489 SCV002676326 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-15 criteria provided, single submitter clinical testing The p.V286F variant (also known as c.856G>T), located in coding exon 3 of the BLM gene, results from a G to T substitution at nucleotide position 856. The valine at codon 286 is replaced by phenylalanine, an amino acid with highly 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. RCV000699392 SCV002089982 uncertain significance Bloom syndrome 2018-11-06 no assertion criteria provided clinical testing

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