ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.336+3G>A

dbSNP: rs765836538
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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 RCV000803979 SCV000943868 uncertain significance Amelocerebrohypohidrotic syndrome 2018-07-01 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with ROGDI-related disease. This variant is present in population databases (rs765836538, ExAC 0.01%). This sequence change falls in intron 5 of the ROGDI gene. It does not directly change the encoded amino acid sequence of the ROGDI protein, but it affects a nucleotide within the consensus splice site of the intron.
Ambry Genetics RCV003166234 SCV003896041 uncertain significance Inborn genetic diseases 2023-03-06 criteria provided, single submitter clinical testing The c.336+3G>A intronic alteration consists of a G to A substitution 3 nucleotides after exon 5 of the ROGDI gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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