ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3023A>T (p.Glu1008Val)

dbSNP: rs1896971371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240659 SCV001413625 uncertain significance Bloom syndrome 2019-11-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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"). This variant has not been reported in the literature in individuals with BLM-related conditions. This sequence change replaces glutamic acid with valine at codon 1008 of the BLM protein (p.Glu1008Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine.
Ambry Genetics RCV002436949 SCV002753402 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-28 criteria provided, single submitter clinical testing The p.E1008V variant (also known as c.3023A>T), located in coding exon 15 of the BLM gene, results from an A to T substitution at nucleotide position 3023. The glutamic acid at codon 1008 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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