ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp)

gnomAD frequency: 0.00093  dbSNP: rs142582318
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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 RCV001078990 SCV001099391 likely benign Muscle AMP deaminase deficiency 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000676656 SCV001776582 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001078990 SCV003826258 uncertain significance Muscle AMP deaminase deficiency 2019-06-10 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676656 SCV000802450 uncertain significance not provided 2018-01-12 no assertion criteria provided clinical testing

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