ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)

dbSNP: rs1555423753
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666852 SCV000791214 likely pathogenic Bloom syndrome 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV000666852 SCV002136934 pathogenic Bloom syndrome 2023-06-16 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: 551719). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1076Cysfs*3) 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).
GeneDx RCV002260657 SCV002540489 pathogenic not provided 2022-06-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002442393 SCV002611356 pathogenic Hereditary cancer-predisposing syndrome 2021-06-29 criteria provided, single submitter clinical testing The c.3222_3223delAA pathogenic mutation, located in coding exon 16 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 3222 to 3223, causing a translational frameshift with a predicted alternate stop codon (p.D1076Cfs*3). 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 RCV000666852 SCV004210855 likely pathogenic Bloom syndrome 2023-09-20 criteria provided, single submitter clinical testing

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