ClinVar Miner

Submissions for variant NM_031844.3(HNRNPU):c.1460G>C (p.Gly487Ala)

gnomAD frequency: 0.00005  dbSNP: rs199740131
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002526402 SCV000545557 benign Developmental and epileptic encephalopathy, 54 2025-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001692128 SCV001910361 benign not provided 2020-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393100 SCV002699950 benign Inborn genetic diseases 2019-06-28 criteria provided, single submitter clinical testing This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen RCV001692128 SCV004126328 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing HNRNPU: PP2, BS1

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