ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp)

gnomAD frequency: 0.00002  dbSNP: rs150784889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528775 SCV000623308 uncertain significance Bloom syndrome 2024-12-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1104 of the BLM protein (p.Gly1104Asp). This variant is present in population databases (rs150784889, gnomAD 0.004%). 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: 454135). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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 RCV001019904 SCV001181318 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-01 criteria provided, single submitter clinical testing The p.G1104D variant (also known as c.3311G>A), located in coding exon 16 of the BLM gene, results from a G to A substitution at nucleotide position 3311. The glycine at codon 1104 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is 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. RCV000528775 SCV002090546 uncertain significance Bloom syndrome 2020-08-27 no assertion criteria provided clinical testing

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