ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3242T>A (p.Val1081Glu)

dbSNP: rs762716289
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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 RCV000232488 SCV000283134 uncertain significance Bloom syndrome 2021-09-06 criteria provided, single submitter clinical testing This sequence change replaces valine with glutamic acid at codon 1081 of the BLM protein (p.Val1081Glu). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant is present in population databases (rs762716289, ExAC 0.006%). 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: 236813). 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"). 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.
Counsyl RCV000232488 SCV000788629 uncertain significance Bloom syndrome 2017-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321849 SCV002610969 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-18 criteria provided, single submitter clinical testing The p.V1081E variant (also known as c.3242T>A), located in coding exon 16 of the BLM gene, results from a T to A substitution at nucleotide position 3242. The valine at codon 1081 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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