ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1969A>G (p.Lys657Glu)

gnomAD frequency: 0.00001  dbSNP: rs758782238
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561947 SCV000672992 uncertain significance Hereditary cancer-predisposing syndrome 2017-06-19 criteria provided, single submitter clinical testing The p.K657E variant (also known as c.1969A>G), located in coding exon 7 of the BLM gene, results from an A to G substitution at nucleotide position 1969. The lysine at codon 657 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001829605 SCV004489708 uncertain significance Bloom syndrome 2022-12-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs758782238, gnomAD 0.007%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 657 of the BLM protein (p.Lys657Glu). This variant has not been reported in the literature in individuals affected with BLM-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function. ClinVar contains an entry for this variant (Variation ID: 485356).
Natera, Inc. RCV001829605 SCV002088020 uncertain significance Bloom syndrome 2018-09-18 no assertion criteria provided clinical testing

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