ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3154C>A (p.Pro1052Thr)

dbSNP: rs1596260044
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000814355 SCV000954760 uncertain significance Bloom syndrome 2022-09-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 657692). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1052 of the BLM protein (p.Pro1052Thr).
Ambry Genetics RCV002325596 SCV002610139 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-04 criteria provided, single submitter clinical testing The p.P1052T variant (also known as c.3154C>A), located in coding exon 15 of the BLM gene, results from a C to A substitution at nucleotide position 3154. The proline at codon 1052 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. 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.

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