ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3569T>C (p.Met1190Thr)

gnomAD frequency: 0.00001  dbSNP: rs1555424373
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571162 SCV000672971 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-31 criteria provided, single submitter clinical testing The p.M1190T variant (also known as c.3569T>C), located in coding exon 18 of the BLM gene, results from a T to C substitution at nucleotide position 3569. The methionine at codon 1190 is replaced by threonine, an amino acid with similar properties. This amino acid position is not 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000628663 SCV000749568 uncertain significance Bloom syndrome 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1190 of the BLM protein (p.Met1190Thr). 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: 485339). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function with a negative predictive value of 80%. 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.
Sema4, Sema4 RCV000571162 SCV002532477 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-15 criteria provided, single submitter curation
Natera, Inc. RCV000628663 SCV002090587 uncertain significance Bloom syndrome 2019-02-24 no assertion criteria provided clinical testing

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