ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly)

gnomAD frequency: 0.00001  dbSNP: rs746979958
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869579 SCV001011017 benign Bloom syndrome 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363252 SCV002624883 likely benign Hereditary cancer-predisposing syndrome 2022-06-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV000869579 SCV002090622 likely benign Bloom syndrome 2020-09-01 no assertion criteria provided clinical testing
Department of Thoracic Surgery and State Key Laboratory of Genetic Engineering, Fudan University Shanghai Cancer Center RCV003483746 SCV004228488 drug response Olaparib response 2023-11-01 no assertion criteria provided research Germline variants of Holliday junction resolvase genes in multiple primary malignancies involving lung cancer lead to Olaparib sensitization.

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