ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1676A>T (p.Asp559Val)

dbSNP: rs1596230337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807217 SCV000947260 uncertain significance Bloom syndrome 2018-08-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with valine at codon 559 of the BLM protein (p.Asp559Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. This variant has not been reported in the literature in individuals with BLM-related disease. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV001012611 SCV001173086 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-10 criteria provided, single submitter clinical testing The p.D559V variant (also known as c.1676A>T), located in coding exon 6 of the BLM gene, results from an A to T substitution at nucleotide position 1676. The aspartic acid at codon 559 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is highly 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. RCV000807217 SCV002092384 uncertain significance Bloom syndrome 2018-05-29 no assertion criteria provided clinical testing

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