ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.613C>T (p.Gln205Ter)

dbSNP: rs780059442
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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 RCV001960730 SCV002235062 pathogenic Amelocerebrohypohidrotic syndrome 2021-02-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln205*) in the ROGDI gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ROGDI are known to be pathogenic (PMID: 22424600, 23086778). 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. For these reasons, this variant has been classified as Pathogenic.

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