ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.726G>A (p.Pro242=)

gnomAD frequency: 0.00008  dbSNP: rs199980707
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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 RCV002099657 SCV002323940 likely benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2024-12-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003408105 SCV004124191 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing AMPD2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003408105 SCV005259258 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003911171 SCV004719232 likely benign AMPD2-related disorder 2019-11-21 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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