ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.208G>A (p.Asp70Asn)

dbSNP: rs769957028
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628617 SCV000749519 uncertain significance Bloom syndrome 2022-10-15 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 70 of the BLM protein (p.Asp70Asn). This variant is present in population databases (rs769957028, gnomAD 0.002%). 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: 524758). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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 RCV001014393 SCV001175093 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-28 criteria provided, single submitter clinical testing The p.D70N variant (also known as c.208G>A), located in coding exon 2 of the BLM gene, results from a G to A substitution at nucleotide position 208. The aspartic acid at codon 70 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Sema4, Sema4 RCV001014393 SCV002533726 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Natera, Inc. RCV000628617 SCV001456632 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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