ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2381T>C (p.Ile794Thr)

gnomAD frequency: 0.00001  dbSNP: rs373819952
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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 RCV001341830 SCV001535723 uncertain significance Bloom syndrome 2024-09-12 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 794 of the BLM protein (p.Ile794Thr). This variant is present in population databases (rs373819952, gnomAD 0.004%). 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: 1038510). 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 expected to disrupt BLM protein function with a positive 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 RCV003294344 SCV003999926 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-14 criteria provided, single submitter clinical testing The p.I794T variant (also known as c.2381T>C), located in coding exon 10 of the BLM gene, results from a T to C substitution at nucleotide position 2381. The isoleucine at codon 794 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. RCV001341830 SCV002088064 uncertain significance Bloom syndrome 2019-05-28 no assertion criteria provided clinical testing

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