ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.558C>A (p.Ser186=)

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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 RCV003022803 SCV003317150 uncertain significance Amelocerebrohypohidrotic syndrome 2022-02-18 criteria provided, single submitter clinical testing This sequence change affects codon 186 of the ROGDI mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ROGDI protein. 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). 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.

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