ClinVar Miner

Submissions for variant NM_024589.3(ROGDI):c.117+6_117+7delinsAT

dbSNP: rs2082742151
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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 RCV001231915 SCV001404453 uncertain significance Amelocerebrohypohidrotic syndrome 2022-05-01 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the ROGDI gene. It does not directly change the encoded amino acid sequence of the ROGDI protein. It affects a nucleotide within the consensus splice site. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with ROGDI-related conditions. ClinVar contains an entry for this variant (Variation ID: 958701). Variants that disrupt 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 is not likely to affect RNA splicing. 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.

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