ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.671A>G (p.Gln224Arg)

gnomAD frequency: 0.00001  dbSNP: rs770111029
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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 RCV000229061 SCV000283153 uncertain significance Bloom syndrome 2023-07-31 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 236823). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is present in population databases (rs770111029, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 224 of the BLM protein (p.Gln224Arg).
Ambry Genetics RCV002372242 SCV002667307 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-27 criteria provided, single submitter clinical testing The p.Q224R variant (also known as c.671A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 671. The glutamine at codon 224 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.
Natera, Inc. RCV000229061 SCV002089962 uncertain significance Bloom syndrome 2021-08-16 no assertion criteria provided clinical testing

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