ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly)

gnomAD frequency: 0.00001  dbSNP: rs751765688
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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 RCV000804167 SCV000944063 uncertain significance Bloom syndrome 2024-11-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1124 of the BLM protein (p.Ala1124Gly). This variant is present in population databases (rs751765688, 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: 649273). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002453784 SCV002614401 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-13 criteria provided, single submitter clinical testing The p.A1124G variant (also known as c.3371C>G), located in coding exon 17 of the BLM gene, results from a C to G substitution at nucleotide position 3371. The alanine at codon 1124 is replaced by glycine, 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. RCV000804167 SCV002090559 uncertain significance Bloom syndrome 2018-11-13 no assertion criteria provided clinical testing

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