ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3287G>T (p.Gly1096Val)

dbSNP: rs893352310
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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 RCV000458942 SCV000543373 uncertain significance Bloom syndrome 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1096 of the BLM protein (p.Gly1096Val). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 405310). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002446781 SCV002612541 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-23 criteria provided, single submitter clinical testing The p.G1096V variant (also known as c.3287G>T), located in coding exon 16 of the BLM gene, results from a G to T substitution at nucleotide position 3287. The glycine at codon 1096 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is 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.
Natera, Inc. RCV000458942 SCV001456893 uncertain significance Bloom syndrome 2020-09-16 no assertion criteria provided clinical testing

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