ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.-43_-24dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002790725 SCV003033781 pathogenic Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala47Glyfs*147) in the AMPD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AMPD2 are known to be pathogenic (PMID: 23911318). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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