ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.700G>A (p.Asp234Asn)

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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 RCV002922590 SCV003262590 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-03-24 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant is present in population databases (rs554958089, gnomAD 0.009%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 288 of the AMPD2 protein (p.Asp288Asn).

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