ClinVar Miner

Submissions for variant NM_145200.5(CABP4):c.370del (p.Arg124fs)

dbSNP: rs1482314855
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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 RCV001388820 SCV001589969 pathogenic not provided 2023-09-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg124Alafs*8) in the CABP4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CABP4 are known to be pathogenic (PMID: 25307992). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075268). This variant has not been reported in the literature in individuals affected with CABP4-related conditions.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815526 SCV005071422 pathogenic Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing

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