ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.229_230del (p.Leu77fs)

dbSNP: rs764899074
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000024224 SCV002238542 pathogenic Amelocerebrohypohidrotic syndrome 2021-02-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Kohlschutter syndrome (PMID: 22424600). ClinVar contains an entry for this variant (Variation ID: 31225). This variant is present in population databases (rs764899074, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Leu77Alafs*64) 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).
OMIM RCV000024224 SCV000045515 pathogenic Amelocerebrohypohidrotic syndrome 2012-04-06 no assertion criteria provided literature only

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