ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.144del (p.Lys48fs)

dbSNP: rs753599044
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001526732 SCV001737156 pathogenic Cone-rod dystrophy 20 2021-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001863223 SCV002145805 pathogenic not provided 2024-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys48Asnfs*16) in the POC1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POC1B are known to be pathogenic (PMID: 25018096, 29220607). This variant is present in population databases (rs753599044, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with POC1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1029264). For these reasons, this variant has been classified as Pathogenic.
3billion RCV001526732 SCV005904073 pathogenic Cone-rod dystrophy 20 2024-02-28 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: 0.002%). Predicted Consequence/Location: Frameshift: 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 at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV001029264). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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