ClinVar Miner

Submissions for variant NM_001368809.2(AMPD2):c.422A>G (p.Gln141Arg)

dbSNP: rs2101156801
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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 RCV001966255 SCV002247992 uncertain significance Hereditary spastic paraplegia 63; Pontocerebellar hypoplasia type 9 2022-07-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 195 of the AMPD2 protein (p.Gln195Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AMPD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1467174).

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