ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3786A>G (p.Gln1262=)

dbSNP: rs1567065650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002028665 SCV002290113 likely benign Bloom syndrome 2024-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346277 SCV002622569 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-15 criteria provided, single submitter clinical testing The c.3786A>G variant (also known as p.Q1262Q), located in coding exon 19 of the BLM gene, results from an A to G substitution at nucleotide position 3786. This nucleotide substitution does not change the glutamine at codon 1262. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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