ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.2240G>A (p.Arg747His)

gnomAD frequency: 0.00001  dbSNP: rs199953057
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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 RCV001304765 SCV001494060 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 747 of the RBP3 protein (p.Arg747His). This variant is present in population databases (rs199953057, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with RBP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007565). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002543110 SCV003694041 uncertain significance Inborn genetic diseases 2022-02-10 criteria provided, single submitter clinical testing The c.2240G>A (p.R747H) alteration is located in exon 1 (coding exon 1) of the RBP3 gene. This alteration results from a G to A substitution at nucleotide position 2240, causing the arginine (R) at amino acid position 747 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135941 SCV003813795 uncertain significance Retinitis pigmentosa 66 2020-03-26 criteria provided, single submitter clinical testing

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