ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2743G>A (p.Ala915Thr)

dbSNP: rs1896709530
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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 RCV001218194 SCV001390066 uncertain significance Bloom syndrome 2023-11-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 915 of the BLM protein (p.Ala915Thr). 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: 947178). 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 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 RCV002436838 SCV002749424 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-22 criteria provided, single submitter clinical testing The p.A915T variant (also known as c.2743G>A), located in coding exon 13 of the BLM gene, results from a G to A substitution at nucleotide position 2743. The alanine at codon 915 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001218194 SCV002088116 uncertain significance Bloom syndrome 2021-05-24 no assertion criteria provided clinical testing

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