ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.727A>G (p.Ile243Val)

gnomAD frequency: 0.00001  dbSNP: rs201722470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228074 SCV000283156 uncertain significance Bloom syndrome 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 243 of the BLM protein (p.Ile243Val). This variant is present in population databases (rs201722470, gnomAD 0.004%). 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: 236826). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV001026222 SCV001188560 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-11 criteria provided, single submitter clinical testing The p.I243V variant (also known as c.727A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 727. The isoleucine at codon 243 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Natera, Inc. RCV000228074 SCV002089968 uncertain significance Bloom syndrome 2018-09-11 no assertion criteria provided clinical testing

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