ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3101C>T (p.Thr1034Met)

dbSNP: rs753652339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000562962 SCV000672998 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-27 criteria provided, single submitter clinical testing The p.T1034M variant (also known as c.3101C>T), located in coding exon 15 of the BLM gene, results from a C to T substitution at nucleotide position 3101. The threonine at codon 1034 is replaced by methionine, 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.
Invitae RCV001316694 SCV001507326 uncertain significance Bloom syndrome 2023-08-22 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 485362). This variant has not been reported in the literature in individuals affected with BLM-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1034 of the BLM protein (p.Thr1034Met).
Natera, Inc. RCV001316694 SCV002090516 uncertain significance Bloom syndrome 2018-09-17 no assertion criteria provided clinical testing

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