ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.507del (p.Glu170fs)

dbSNP: rs786205124
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091534 SCV001247650 pathogenic not provided 2025-03-01 criteria provided, single submitter clinical testing ROGDI: PVS1, PM3:Strong, PM2
Institute of Human Genetics, University of Leipzig Medical Center RCV000034351 SCV004242446 pathogenic Amelocerebrohypohidrotic syndrome 2023-12-13 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM3,PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV000034351 SCV004266545 pathogenic Amelocerebrohypohidrotic syndrome 2024-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu170Argfs*72) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Kohlschutter syndrome (PMID: 23086778). ClinVar contains an entry for this variant (Variation ID: 41465). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001091534 SCV005325068 pathogenic not provided 2023-11-13 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28638151, 34939736, 3236364, 23086778)
OMIM RCV000034351 SCV000058332 pathogenic Amelocerebrohypohidrotic syndrome 2013-02-01 no assertion criteria provided literature only

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