ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.728T>C (p.Ile243Thr)

dbSNP: rs200000438
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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 RCV001246538 SCV001419897 uncertain significance Bloom syndrome 2024-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 243 of the BLM protein (p.Ile243Thr). This variant is present in population databases (rs200000438, gnomAD 0.0009%). 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: 970882). 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 RCV002379944 SCV002673892 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-16 criteria provided, single submitter clinical testing The p.I243T variant (also known as c.728T>C), located in coding exon 2 of the BLM gene, results from a T to C substitution at nucleotide position 728. The isoleucine at codon 243 is replaced by threonine, 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.
Natera, Inc. RCV001246538 SCV002089969 uncertain significance Bloom syndrome 2018-11-04 no assertion criteria provided clinical testing

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