ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn)

dbSNP: rs779179608
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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 RCV001021489 SCV001183114 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-27 criteria provided, single submitter clinical testing The p.D1316N variant (also known as c.3946G>A), located in coding exon 20 of the BLM gene, results from a G to A substitution at nucleotide position 3946. The aspartic acid at codon 1316 is replaced by asparagine, an amino acid with highly 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.
Invitae RCV001273626 SCV001544488 uncertain significance Bloom syndrome 2023-12-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1316 of the BLM protein (p.Asp1316Asn). This variant is present in population databases (rs779179608, 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: 824409). 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.
Natera, Inc. RCV001273626 SCV001456911 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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