ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3298A>G (p.Ile1100Val)

gnomAD frequency: 0.00001  dbSNP: rs1897079693
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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 RCV001371227 SCV001567785 uncertain significance Bloom syndrome 2022-09-20 criteria provided, single submitter clinical testing 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1061614). 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 isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1100 of the BLM protein (p.Ile1100Val).
Ambry Genetics RCV002456581 SCV002612030 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-24 criteria provided, single submitter clinical testing The p.I1100V variant (also known as c.3298A>G), located in coding exon 16 of the BLM gene, results from an A to G substitution at nucleotide position 3298. The isoleucine at codon 1100 is replaced by valine, 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. RCV001371227 SCV002090540 uncertain significance Bloom syndrome 2020-04-22 no assertion criteria provided clinical testing

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