ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) (rs754203833)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671593 SCV000796581 likely pathogenic Bloom syndrome 2017-12-19 criteria provided, single submitter clinical testing
Invitae RCV000671593 SCV000824659 pathogenic Bloom syndrome 2019-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser434*) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754203833, ExAC 0.01%). This variant has not been reported in the literature in individuals with BLM-related disease. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001010863 SCV001171117 pathogenic Hereditary cancer-predisposing syndrome 2018-06-28 criteria provided, single submitter clinical testing The p.S434* pathogenic mutation (also known as c.1301C>G), located in coding exon 6 of the BLM gene, results from a C to G substitution at nucleotide position 1301. 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.

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