ClinVar Miner

Submissions for variant NM_145200.5(CABP4):c.673C>T (p.Arg225Ter)

gnomAD frequency: 0.00002  dbSNP: rs531851447
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074813 SCV001240411 pathogenic Retinal dystrophy 2019-07-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253657 SCV001429492 pathogenic Cone-rod synaptic disorder, congenital nonprogressive 2018-02-14 criteria provided, single submitter clinical testing This variant was identified as homozygous
Labcorp Genetics (formerly Invitae), Labcorp RCV001385530 SCV001585413 pathogenic not provided 2020-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg225*) in the CABP4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs531851447, ExAC 0.007%). This variant has been observed in individual(s) with cone-rod synaptic disorder (PMID: 28041643, 28341476, 29525873). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 438047). Loss-of-function variants in CABP4 are known to be pathogenic (PMID: 25307992). For these reasons, this variant has been classified as Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504725 SCV000598872 likely pathogenic Cone dystrophy 2015-01-01 no assertion criteria provided research
Genomics England Pilot Project, Genomics England RCV001253657 SCV001760280 pathogenic Cone-rod synaptic disorder, congenital nonprogressive no assertion criteria provided clinical testing

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