ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.665G>A (p.Gly222Asp)

gnomAD frequency: 0.00001  dbSNP: rs1317312771
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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 RCV002049030 SCV002312336 uncertain significance Amelocerebrohypohidrotic syndrome 2022-11-07 criteria provided, single submitter clinical testing 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"). 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. ClinVar contains an entry for this variant (Variation ID: 1523962). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 222 of the ROGDI protein (p.Gly222Asp).

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