ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.499A>G (p.Lys167Glu)

gnomAD frequency: 0.00001  dbSNP: rs775285496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628641 SCV000749545 uncertain significance Bloom syndrome 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 167 of the BLM protein (p.Lys167Glu). This variant is present in population databases (rs775285496, 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: 524778). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid 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 RCV002334043 SCV002640659 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-01 criteria provided, single submitter clinical testing The p.K167E variant (also known as c.499A>G), located in coding exon 2 of the BLM gene, results from an A to G substitution at nucleotide position 499. The lysine at codon 167 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, glutamic acid is the reference amino acid in other 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.
Natera, Inc. RCV000628641 SCV002089939 uncertain significance Bloom syndrome 2018-09-03 no assertion criteria provided clinical testing

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