ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3641T>C (p.Met1214Thr)

dbSNP: rs1596268211
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804098 SCV000943992 uncertain significance Bloom syndrome 2023-11-08 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 1214 of the BLM protein (p.Met1214Thr). 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: 649215). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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 RCV002345804 SCV002619339 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-31 criteria provided, single submitter clinical testing The p.M1214T variant (also known as c.3641T>C), located in coding exon 18 of the BLM gene, results from a T to C substitution at nucleotide position 3641. The methionine at codon 1214 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. RCV000804098 SCV002090593 uncertain significance Bloom syndrome 2020-07-05 no assertion criteria provided clinical testing

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