ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.52G>T (p.Glu18Ter)

gnomAD frequency: 0.00001  dbSNP: rs1221411185
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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 RCV001890161 SCV002137577 pathogenic Amelocerebrohypohidrotic syndrome 2022-08-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1378437). This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu18*) 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).

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