ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter)

gnomAD frequency: 0.00003  dbSNP: rs372097881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598791 SCV000710485 pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing The Q112X variant in the ROGDI gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q112X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q112X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001213867 SCV001385519 pathogenic Amelocerebrohypohidrotic syndrome 2019-10-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ROGDI are known to be pathogenic (PMID: 22424600, 23086778). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ROGDI-related conditions. ClinVar contains an entry for this variant (Variation ID: 504177). This variant is present in population databases (rs372097881, ExAC 0.04%). This sequence change creates a premature translational stop signal (p.Gln112*) in the ROGDI gene. It is expected to result in an absent or disrupted protein product.
Fulgent Genetics, Fulgent Genetics RCV001213867 SCV005646916 likely pathogenic Amelocerebrohypohidrotic syndrome 2024-05-30 criteria provided, single submitter clinical testing

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