ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.151G>A (p.Ala51Thr)

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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 RCV003098888 SCV003482337 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 105 of the AMPD2 protein (p.Ala105Thr). This variant is present in population databases (rs768390114, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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