ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.960-4G>A

dbSNP: rs1555418976
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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 RCV000628697 SCV000749603 likely benign Bloom syndrome 2024-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019548 SCV001180920 likely benign Hereditary cancer-predisposing syndrome 2023-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003420088 SCV004117441 uncertain significance BLM-related disorder 2023-05-11 criteria provided, single submitter clinical testing The BLM c.960-4G>A variant is predicted to interfere with splicing. This variant is predicted to alter splicing based on available splicing prediction programs (Alamut Visual Plus v1.6.). However, such computer prediction programs are imperfect. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has conflicting interpretations in Clinvar ranging from likely benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/524826/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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