ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.722G>C (p.Gly241Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002371006 SCV002672418 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-08 criteria provided, single submitter clinical testing The p.G241A variant (also known as c.722G>C), located in coding exon 2 of the BLM gene, results from a G to C substitution at nucleotide position 722. The glycine at codon 241 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV003614131 SCV004483555 uncertain significance Bloom syndrome 2022-11-14 criteria provided, single submitter clinical testing 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. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 241 of the BLM protein (p.Gly241Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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.

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