ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile)

dbSNP: rs1555424324
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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 RCV000567776 SCV000672996 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-13 criteria provided, single submitter clinical testing The p.T1179I variant (also known as c.3536C>T), located in coding exon 17 of the BLM gene, results from a C to T substitution at nucleotide position 3536. The threonine at codon 1179 is replaced by isoleucine, 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.
Fulgent Genetics, Fulgent Genetics RCV001829606 SCV002792776 uncertain significance Bloom syndrome 2021-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001829606 SCV005733500 uncertain significance Bloom syndrome 2024-09-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1179 of the BLM protein (p.Thr1179Ile). 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: 485360). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Natera, Inc. RCV001829606 SCV002090582 uncertain significance Bloom syndrome 2020-11-30 no assertion criteria provided clinical testing

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