ClinVar Miner

Submissions for variant NM_020751.3(COG6):c.788+5G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003802399 SCV004608994 uncertain significance COG6-ongenital disorder of glycosylation; Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 2023-05-01 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. 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 may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with COG6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the COG6 gene. It does not directly change the encoded amino acid sequence of the COG6 protein. It affects a nucleotide within the consensus splice site.

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