ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)

dbSNP: rs1596232266
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989387 SCV001139701 pathogenic Bloom syndrome 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002416269 SCV002721720 pathogenic Hereditary cancer-predisposing syndrome 2021-07-26 criteria provided, single submitter clinical testing The p.R669* pathogenic mutation (also known as c.2005A>T), located in coding exon 7 of the BLM gene, results from an A to T substitution at nucleotide position 2005. This changes the amino acid from an arginine to a stop codon within coding exon 7. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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