ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter)

gnomAD frequency: 0.00001  dbSNP: rs762426409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171184 SCV000221381 likely pathogenic not provided criteria provided, single submitter research
Invitae RCV000171184 SCV002247295 pathogenic not provided 2022-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg238*) in the PDE6C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PDE6C are known to be pathogenic (PMID: 19887631, 23776498, 26103963, 30080950). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 191009). This premature translational stop signal has been observed in individual(s) with achromatopsia and/or retinal dystrophy (PMID: 27124789). This variant is present in population databases (rs762426409, gnomAD 0.006%).
3billion RCV001781531 SCV002521750 pathogenic Cone dystrophy 4 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: <0.001%). Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with PDE6C related disorder (ClinVar ID: VCV000191009 / PMID: 27124789). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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