ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)

gnomAD frequency: 0.00002  dbSNP: rs761320085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709371 SCV000838989 uncertain significance Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709371 SCV000943372 uncertain significance Bloom syndrome 2022-10-17 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 1339 of the BLM protein (p.Met1339Thr). This variant is present in population databases (rs761320085, gnomAD 0.003%). 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: 584897). 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. 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 RCV002352229 SCV002622216 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-14 criteria provided, single submitter clinical testing The p.M1339T variant (also known as c.4016T>C), located in coding exon 20 of the BLM gene, results from a T to C substitution at nucleotide position 4016. The methionine at codon 1339 is replaced by threonine, an amino acid with 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. RCV000709371 SCV002090639 uncertain significance Bloom syndrome 2020-10-07 no assertion criteria provided clinical testing

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