ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.216-9C>T

gnomAD frequency: 0.00040  dbSNP: rs570832252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786683 SCV002028574 uncertain significance not provided 2021-05-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV002074088 SCV002368044 likely benign Muscle AMP deaminase deficiency 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948730 SCV004773491 likely benign AMPD1-related disorder 2022-03-16 no assertion criteria provided 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).

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