ClinVar Miner

Submissions for variant NM_015386.3(COG4):c.2363G>A (p.Arg788His)

gnomAD frequency: 0.00003  dbSNP: rs142971847
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002702986 SCV003564127 uncertain significance Inborn genetic diseases 2021-06-01 criteria provided, single submitter clinical testing The c.2363G>A (p.R788H) alteration is located in exon 19 (coding exon 19) of the COG4 gene. This alteration results from a G to A substitution at nucleotide position 2363, causing the arginine (R) at amino acid position 788 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004801303 SCV005421632 uncertain significance not provided 2024-06-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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