ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.695dup (p.Glu233fs)

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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 RCV002890942 SCV003248053 uncertain significance Amelocerebrohypohidrotic syndrome 2021-12-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the ROGDI gene (p.Glu233Argfs*99). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 55 amino acid(s) of the ROGDI protein and extend the protein by 43 additional amino acid residues.

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