ClinVar Miner

Submissions for variant NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys)

gnomAD frequency: 0.00001  dbSNP: rs772592456
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090333 SCV001245822 pathogenic not provided 2018-09-01 criteria provided, single submitter clinical testing
Invitae RCV001090333 SCV002230958 uncertain significance not provided 2021-10-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 253017). This missense change has been observed in individual(s) with inherited retinal disease (PMID: 27486781). This variant is present in population databases (rs772592456, ExAC 0.002%). This sequence change replaces tryptophan with cysteine at codon 310 of the RCBTB1 protein (p.Trp310Cys). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and cysteine.
Center for Medical Genetics Ghent, University of Ghent RCV000239602 SCV000292418 likely pathogenic Retinitis pigmentosa no assertion criteria provided research
OMIM RCV000258140 SCV000328263 pathogenic RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES 2016-11-01 no assertion criteria provided literature only

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