ClinVar Miner

Submissions for variant NM_018191.4(RCBTB1):c.707del (p.Asn236fs)

dbSNP: rs777630688
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001042886 SCV001206594 pathogenic not provided 2024-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn236Thrfs*11) in the RCBTB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RCBTB1 are known to be pathogenic (PMID: 31494449). This variant is present in population databases (rs777630688, gnomAD 0.2%). This premature translational stop signal has been observed in individual(s) with Coats disease and retinal dystrophy (PMID: 26908610, 31494449). ClinVar contains an entry for this variant (Variation ID: 224622). For these reasons, this variant has been classified as Pathogenic.
3billion RCV002250599 SCV002520985 pathogenic RCBTB1-related retinopathy 2022-05-22 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: 0.012%). 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 homozygous variant is shared with the affected family members (3billion dataset). The variant has been reported to be associated with RCBTB1 related disorder (ClinVar ID: VCV000224622). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
SingHealth Duke-NUS Institute of Precision Medicine RCV002250599 SCV005881553 likely pathogenic RCBTB1-related retinopathy 2025-02-05 criteria provided, single submitter clinical testing Variant is predicted to cause nonsense-mediated decay in a gene where LOF is a known cause of pathogenicity (PVS1). Homozygous allele count in gnomAD exomes and genomes are less than 0 (PM2).
Laboratory of Human Molecular Genetics, Department of Medical Research, Taipei Veterans General Hospital RCV000210228 SCV000266325 likely pathogenic Exudative retinopathy no assertion criteria provided research

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