ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)

dbSNP: rs1332024999
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194356 SCV001363842 uncertain significance not specified 2019-09-06 criteria provided, single submitter clinical testing Variant summary: BLM c.1075A>C (p.Thr359Pro) results in a non-conservative amino acid change located in the N-terminal domain (IPR032437) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250686 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1075A>C in individuals affected with Bloom Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics RCV002418655 SCV002723786 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-30 criteria provided, single submitter clinical testing The p.T359P variant (also known as c.1075A>C), located in coding exon 4 of the BLM gene, results from an A to C substitution at nucleotide position 1075. The threonine at codon 359 is replaced by proline, an amino acid with highly 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001828604 SCV002946962 uncertain significance Bloom syndrome 2023-08-28 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.1%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 929221). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 359 of the BLM protein (p.Thr359Pro).
Natera, Inc. RCV001828604 SCV002090005 uncertain significance Bloom syndrome 2017-08-22 no assertion criteria provided clinical testing

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