ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1221-2A>C

dbSNP: rs1555419779
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670242 SCV000795073 likely pathogenic Bloom syndrome 2017-10-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670242 SCV004210853 likely pathogenic Bloom syndrome 2024-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670242 SCV004642567 uncertain significance Bloom syndrome 2023-02-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (Invitae). ClinVar contains an entry for this variant (Variation ID: 554578). Disruption of this splice site has been observed in individual(s) with breast cancer (PMID: 32029870). This sequence change affects an acceptor splice site in intron 6 of the BLM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155).
GeneDx RCV004588096 SCV005079977 likely pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Observed in an individual with breast cancer (Hata et al., 2020); This variant is associated with the following publications: (PMID: 32029870)

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