ClinVar Miner

Submissions for variant NM_032382.5(COG8):c.1833dup (p.Pro612fs)

dbSNP: rs1597221180
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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 RCV000813733 SCV000954104 uncertain significance COG8-congenital disorder of glycosylation 2018-10-31 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. This variant has not been reported in the literature in individuals with COG8-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change results in a frameshift in the COG8 gene (p.Pro612Alafs*59). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last amino acid of the COG8 protein and extend the protein by an additional 58 amino acids.

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