ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.469A>G (p.Met157Val)

dbSNP: rs2151147416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990230 SCV002235274 uncertain significance Bloom syndrome 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 157 of the BLM protein (p.Met157Val). 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. ClinVar contains an entry for this variant (Variation ID: 1450629). 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. 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 RCV004946933 SCV005544613 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-16 criteria provided, single submitter clinical testing The p.M157V variant (also known as c.469A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 469. The methionine at codon 157 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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