ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.175C>T (p.Leu59Phe)

gnomAD frequency: 0.00002  dbSNP: rs766037337
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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 RCV001325073 SCV001516050 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 113 of the AMPD2 protein (p.Leu113Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs766037337, ExAC 0.005%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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