ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2795A>G (p.Gln932Arg)

gnomAD frequency: 0.00002  dbSNP: rs1427273201
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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 RCV001016621 SCV001177591 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-22 criteria provided, single submitter clinical testing The p.Q932R variant (also known as c.2795A>G), located in coding exon 13 of the BLM gene, results from an A to G substitution at nucleotide position 2795. The glutamine at codon 932 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001339285 SCV001533018 uncertain significance Bloom syndrome 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 932 of the BLM protein (p.Gln932Arg). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 821819). 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. 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. RCV001339285 SCV002088119 uncertain significance Bloom syndrome 2018-10-28 no assertion criteria provided clinical testing

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