ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.805C>T (p.Gln269Ter)

dbSNP: rs755209314
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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 RCV000815196 SCV000955644 uncertain significance Amelocerebrohypohidrotic syndrome 2018-08-12 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the ROGDI gene (p.Gln269*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acids of the ROGDI protein. 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 disease. 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.

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