ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.353+3G>A

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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 RCV003079677 SCV003470599 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-06-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant is present in population databases (rs373586469, gnomAD no frequency). This sequence change falls in intron 4 of the AMPD2 gene. It does not directly change the encoded amino acid sequence of the AMPD2 protein. It affects a nucleotide within the consensus splice site.

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