ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3117A>G (p.Ile1039Met)

gnomAD frequency: 0.00004  dbSNP: rs576199850
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115303 SCV000149212 likely benign not provided 2022-11-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001081917 SCV000555818 likely benign Bloom syndrome 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002321589 SCV002607377 likely benign Hereditary cancer-predisposing syndrome 2021-11-26 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000115303 SCV004222473 likely benign not provided 2022-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001081917 SCV001461114 likely benign Bloom syndrome 2018-07-26 no assertion criteria provided clinical testing

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