ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2489C>G (p.Thr830Arg)

dbSNP: rs759545027
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054163 SCV001218465 uncertain significance Bloom syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 830 of the BLM protein (p.Thr830Arg). This variant is not present in population databases (gnomAD no frequency). 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: 850073). 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 expected to disrupt BLM protein function. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (Invitae). 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 RCV002429661 SCV002742235 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-01 criteria provided, single submitter clinical testing The p.T830R variant (also known as c.2489C>G), located in coding exon 11 of the BLM gene, results from a C to G substitution at nucleotide position 2489. The threonine at codon 830 is replaced by arginine, an amino acid with similar 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.
Natera, Inc. RCV001054163 SCV002088076 uncertain significance Bloom syndrome 2021-02-09 no assertion criteria provided clinical testing

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