ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.533G>T (p.Arg178Leu)

dbSNP: rs751703075
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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 RCV001345220 SCV001539324 uncertain significance Amelocerebrohypohidrotic syndrome 2020-09-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 178 of the ROGDI protein (p.Arg178Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ROGDI-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291299 SCV002583692 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing PM2, PP3

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