ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1659G>A (p.Val553=)

gnomAD frequency: 0.00001  dbSNP: rs764316430
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001876291 SCV002292534 likely benign not provided 2023-07-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928793 SCV004740802 likely benign MMUT-related condition 2019-05-10 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. RCV001835176 SCV002077371 uncertain significance Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2020-03-10 no assertion criteria provided clinical testing

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