ClinVar Miner

Submissions for variant NM_201253.3(CRB1):c.2505_2508del (p.Pro836fs)

dbSNP: rs778419716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001985485 SCV002218480 pathogenic Retinitis pigmentosa 12; Leber congenital amaurosis 8 2023-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1446299). This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 30608181). This variant is present in population databases (rs778419716, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Pro836Thrfs*19) in the CRB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB1 are known to be pathogenic (PMID: 10508521, 22065545, 23379534, 25412400, 26957898, 28041643, 29391521).
Baylor Genetics RCV003475197 SCV004211112 pathogenic Leber congenital amaurosis 8 2023-10-19 criteria provided, single submitter clinical testing
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV003475197 SCV005420435 likely pathogenic Leber congenital amaurosis 8 2024-10-04 criteria provided, single submitter research PVS1,PM2

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