ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.652dup (p.Arg218fs)

dbSNP: rs2141905980
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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 RCV001385744 SCV001585706 pathogenic Amelocerebrohypohidrotic syndrome 2020-03-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg218Profs*10) in the ROGDI gene. It is expected to result in an absent or disrupted protein product. 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. Loss-of-function variants in ROGDI are known to be pathogenic (PMID: 22424600, 23086778). For these reasons, this variant has been classified as Pathogenic.

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