ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.1745A>G (p.His582Arg)

gnomAD frequency: 0.00001  dbSNP: rs539379857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001877018 SCV002137408 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2021-09-03 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 636 of the AMPD2 protein (p.His636Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs539379857, ExAC 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 (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.
GeneDx RCV003442932 SCV004170026 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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