ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3694G>A (p.Val1232Ile)

dbSNP: rs1897236925
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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 RCV001218059 SCV001389926 uncertain significance Bloom syndrome 2023-04-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 947068). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BLM protein function. This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1232 of the BLM protein (p.Val1232Ile).
Ambry Genetics RCV002356927 SCV002623978 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-31 criteria provided, single submitter clinical testing The p.V1232I variant (also known as c.3694G>A), located in coding exon 18 of the BLM gene, results from a G to A substitution at nucleotide position 3694. The valine at codon 1232 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. 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. RCV001218059 SCV002090597 uncertain significance Bloom syndrome 2019-10-21 no assertion criteria provided clinical testing

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