ClinVar Miner

Submissions for variant NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr)

gnomAD frequency: 0.00053  dbSNP: rs140181682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592181 SCV000703966 uncertain significance not provided 2017-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000394998 SCV000830006 benign Muscle AMP deaminase deficiency 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949964 SCV004758774 likely benign AMPD1-related disorder 2020-06-29 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).

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