ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)

gnomAD frequency: 0.00001  dbSNP: rs368547042
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695709 SCV000824224 benign Bloom syndrome 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011868 SCV001172243 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-30 criteria provided, single submitter clinical testing The p.Q497R variant (also known as c.1490A>G), located in coding exon 6 of the BLM gene, results from an A to G substitution at nucleotide position 1490. The glutamine at codon 497 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not 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.
Baylor Genetics RCV000695709 SCV001522804 uncertain significance Bloom syndrome 2020-01-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV004792394 SCV005411153 uncertain significance not provided 2024-05-02 criteria provided, single submitter clinical testing BP4, PM2
Natera, Inc. RCV000695709 SCV001461100 uncertain significance Bloom syndrome 2018-12-17 no assertion criteria provided clinical testing

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