ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.380C>T (p.Thr127Ile)

dbSNP: rs1895613545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001215711 SCV001387470 uncertain significance Bloom syndrome 2023-01-23 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 945146). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 127 of the BLM protein (p.Thr127Ile).
Ambry Genetics RCV002365970 SCV002625470 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-31 criteria provided, single submitter clinical testing The p.T127I variant (also known as c.380C>T), located in coding exon 2 of the BLM gene, results from a C to T substitution at nucleotide position 380. The threonine at codon 127 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.

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