ClinVar Miner

Submissions for variant NM_172240.3(POC1B):c.1079_1080del (p.Pro360fs)

gnomAD frequency: 0.00005  dbSNP: rs774472777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001891811 SCV002169943 pathogenic not provided 2024-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro360Argfs*8) 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 (rs774472777, gnomAD 0.004%). 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: 1397795). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815743 SCV005068416 pathogenic Retinal dystrophy 2020-01-01 criteria provided, single submitter clinical testing

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