ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.607A>G (p.Thr203Ala)

gnomAD frequency: 0.00001  dbSNP: rs1060500633
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469358 SCV000543331 uncertain significance Bloom syndrome 2022-07-03 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 203 of the BLM protein (p.Thr203Ala). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 405278). 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 alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002356649 SCV002659887 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-12 criteria provided, single submitter clinical testing The p.T203A variant (also known as c.607A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 607. The threonine at codon 203 is replaced by alanine, an amino acid with 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.
Natera, Inc. RCV000469358 SCV002089952 uncertain significance Bloom syndrome 2020-10-20 no assertion criteria provided clinical testing

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