ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3021G>A (p.Met1007Ile)

gnomAD frequency: 0.00001  dbSNP: rs1244649224
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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 RCV000705545 SCV000834546 uncertain significance Bloom syndrome 2024-11-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1007 of the BLM protein (p.Met1007Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 581653). 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. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (internal data). 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265866 SCV002548388 uncertain significance not specified 2022-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440537 SCV002753081 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-03 criteria provided, single submitter clinical testing The p.M1007I variant (also known as c.3021G>A), located in coding exon 15 of the BLM gene, results from a G to A substitution at nucleotide position 3021. The methionine at codon 1007 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well 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.

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