ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly)

gnomAD frequency: 0.00001  dbSNP: rs776714693
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475328 SCV000543332 uncertain significance Bloom syndrome 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1079 of the BLM protein (p.Asp1079Gly). This variant is present in population databases (rs776714693, gnomAD 0.005%). 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: 405279). 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 with a negative predictive value of 80%. 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 RCV001019346 SCV001180693 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter clinical testing The p.D1079G variant (also known as c.3236A>G), located in coding exon 16 of the BLM gene, results from an A to G substitution at nucleotide position 3236. The aspartic acid at codon 1079 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well 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.
Natera, Inc. RCV000475328 SCV001461118 uncertain significance Bloom syndrome 2020-04-24 no assertion criteria provided clinical testing

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