ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter)

dbSNP: rs387907145
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000024225 SCV000622153 pathogenic Amelocerebrohypohidrotic syndrome 2015-12-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000024225 SCV001583198 pathogenic Amelocerebrohypohidrotic syndrome 2020-11-18 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). This variant has been observed in individual(s) with Kohlschutter-Tonz syndrome (PMID: 22424600). ClinVar contains an entry for this variant (Variation ID: 31226). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln96*) in the ROGDI gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000024225 SCV000045516 pathogenic Amelocerebrohypohidrotic syndrome 2006-02-01 no assertion criteria provided literature only

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