ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=)

gnomAD frequency: 0.00159  dbSNP: rs35337955
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872563 SCV001014393 benign Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001559664 SCV001781941 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003344100 SCV004050595 likely benign Hereditary spastic paraplegia 63 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003344101 SCV004050596 likely benign Pontocerebellar hypoplasia type 9 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001559664 SCV005259261 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003948188 SCV004762714 likely benign AMPD2-related disorder 2019-11-07 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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