ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.433G>C (p.Glu145Gln)

gnomAD frequency: 0.00003  dbSNP: rs753757082
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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 RCV001909369 SCV002187229 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-09-01 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1407864). This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. This variant is present in population databases (rs753757082, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 199 of the AMPD2 protein (p.Glu199Gln).

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