ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2858T>C (p.Ile953Thr)

dbSNP: rs587778102
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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 RCV000573639 SCV000672974 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-28 criteria provided, single submitter clinical testing The p.I953T variant (also known as c.2858T>C), located in coding exon 14 of the BLM gene, results from a T to C substitution at nucleotide position 2858. The isoleucine at codon 953 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000686394 SCV000813911 uncertain significance Bloom syndrome 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 953 of the BLM protein (p.Ile953Thr). 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: 133699). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
ITMI RCV000120228 SCV000084375 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000686394 SCV002088126 uncertain significance Bloom syndrome 2021-07-20 no assertion criteria provided clinical testing

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