ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.572G>T (p.Arg191Ile)

gnomAD frequency: 0.00001  dbSNP: rs569086568
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000545717 SCV000623341 uncertain significance Bloom syndrome 2024-04-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 191 of the BLM protein (p.Arg191Ile). This variant is present in population databases (rs569086568, gnomAD 0.007%). This missense change has been observed in individual(s) with breast cancer (PMID: 35264596). ClinVar contains an entry for this variant (Variation ID: 454157). 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 disruptive. 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.
Mendelics RCV000545717 SCV000838949 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001024460 SCV001186479 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-02 criteria provided, single submitter clinical testing The p.R191I variant (also known as c.572G>T), located in coding exon 2 of the BLM gene, results from a G to T substitution at nucleotide position 572. The arginine at codon 191 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well 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.
Revvity Omics, Revvity RCV000545717 SCV003831468 uncertain significance Bloom syndrome 2019-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000545717 SCV002089950 uncertain significance Bloom syndrome 2018-11-10 no assertion criteria provided clinical testing

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