ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2254C>A (p.Gln752Lys)

dbSNP: rs1424485988
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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 RCV001370162 SCV001566629 uncertain significance Bloom syndrome 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 752 of the BLM protein (p.Gln752Lys). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 1060697). 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. 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 RCV002447485 SCV002733470 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-22 criteria provided, single submitter clinical testing The p.Q752K variant (also known as c.2254C>A), located in coding exon 9 of the BLM gene, results from a C to A substitution at nucleotide position 2254. The glutamine at codon 752 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001370162 SCV002088053 uncertain significance Bloom syndrome 2019-07-30 no assertion criteria provided clinical testing

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