ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.1494A>G (p.Gln498=)

gnomAD frequency: 0.00519  dbSNP: rs116364703
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883802 SCV001027137 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390862 SCV002700476 likely benign Inborn genetic diseases 2022-04-19 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.
Genome-Nilou Lab RCV003344117 SCV004049544 benign Dihydropyrimidine dehydrogenase deficiency 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000883802 SCV005281611 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910433 SCV004722363 benign DPYD-related disorder 2019-08-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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