ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1452T>C (p.Cys484=)

gnomAD frequency: 0.00008  dbSNP: rs760982359
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000898842 SCV001043071 likely benign Pyruvate dehydrogenase E3 deficiency 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001549379 SCV001769517 likely benign not provided 2018-09-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950523 SCV004759652 likely benign DLD-related disorder 2020-10-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000898842 SCV001465044 likely benign Pyruvate dehydrogenase E3 deficiency 2020-10-12 no assertion criteria provided clinical testing

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