ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2662+2T>G

dbSNP: rs1567052324
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377320 SCV001574626 likely pathogenic Bloom syndrome 2022-11-04 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1066346). 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 affects a donor splice site in intron 13 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).
Baylor Genetics RCV001377320 SCV004210875 likely pathogenic Bloom syndrome 2023-07-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004728692 SCV005339336 likely pathogenic BLM-related disorder 2024-07-18 no assertion criteria provided clinical testing The BLM c.2662+2T>G variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant is predicted to impact splicing at the consensus donor site based on splicing prediction programs (SpliceAI, Jaganathan K, et al. 2019. PubMed ID: 30661751). To our knowledge, this variant has not been reported in the literature. This variant has not been reported in a large population database, indicating this variant is rare. This variant has been interpreted as likely pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/1066346/). Variants that disrupt the consensus splice donor site in BLM are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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