ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2713G>A (p.Ala905Thr)

dbSNP: rs1596252085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016381 SCV001177334 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-27 criteria provided, single submitter clinical testing The p.A905T variant (also known as c.2713G>A), located in coding exon 13 of the BLM gene, results from a G to A substitution at nucleotide position 2713. The alanine at codon 905 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.
Invitae RCV001832340 SCV004276061 uncertain significance Bloom syndrome 2024-01-12 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 905 of the BLM protein (p.Ala905Thr). 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: 821701). 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 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.
Natera, Inc. RCV001832340 SCV002088108 uncertain significance Bloom syndrome 2020-09-26 no assertion criteria provided clinical testing

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