ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1832C>A (p.Ser611Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003341921 SCV004051489 pathogenic Hereditary cancer-predisposing syndrome 2023-07-25 criteria provided, single submitter clinical testing The p.S611* pathogenic mutation (also known as c.1832C>A), located in coding exon 6 of the BLM gene, results from a C to A substitution at nucleotide position 1832. This changes the amino acid from a serine to a stop codon within coding exon 6. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003614225 SCV004410820 pathogenic Bloom syndrome 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser611*) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). 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. For these reasons, this variant has been classified as Pathogenic.

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