ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1216A>G (p.Ile406Val)

dbSNP: rs769498398
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV003492149 SCV000838956 likely benign Hereditary cancer 2024-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000709359 SCV000957582 benign Bloom syndrome 2024-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352228 SCV002659997 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-13 criteria provided, single submitter clinical testing The p.I406V variant (also known as c.1216A>G), located in coding exon 5 of the BLM gene, results from an A to G substitution at nucleotide position 1216. The isoleucine at codon 406 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.
Fulgent Genetics, Fulgent Genetics RCV000709359 SCV005640429 uncertain significance Bloom syndrome 2023-12-30 criteria provided, single submitter clinical testing

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