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 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 has not been reported in the literature in individuals affected with AMPD2-related conditions. This variant is present in population databases (rs539379857, ExAC 0.01%). 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.
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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