ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)

dbSNP: rs367543026
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169422 SCV000220831 likely pathogenic Bloom syndrome 2014-10-22 criteria provided, single submitter literature only
Invitae RCV000169422 SCV001228415 pathogenic Bloom syndrome 2023-08-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189032). This premature translational stop signal has been observed in individual(s) with Bloom syndrome (PMID: 18471088). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe194*) 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).
Ambry Genetics RCV002354414 SCV002647415 pathogenic Hereditary cancer-predisposing syndrome 2022-02-16 criteria provided, single submitter clinical testing The c.581_582delTT pathogenic mutation, located in coding exon 2 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 581 to 582, causing a translational frameshift with a predicted alternate stop codon (p.F194*). This alteration has been identified in one patient with Bloom syndrome in a homozygous state (Amor-Guéret M et al. Genet Test, 2008 Jun;12:257-61). 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.
Baylor Genetics RCV000169422 SCV004210843 pathogenic Bloom syndrome 2023-10-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000169422 SCV002089951 pathogenic Bloom syndrome 2017-03-16 no assertion criteria provided clinical testing

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