ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.1532A>T (p.Asp511Val)

gnomAD frequency: 0.00001  dbSNP: rs1555211247
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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 RCV001313119 SCV001503598 uncertain significance not provided 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 511 of the RBP3 protein (p.Asp511Val). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 1014391). 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: "Probably 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 RCV002543618 SCV003691514 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.1532A>T (p.D511V) alteration is located in exon 1 (coding exon 1) of the RBP3 gene. This alteration results from a A to T substitution at nucleotide position 1532, causing the aspartic acid (D) at amino acid position 511 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GenomeConnect - Invitae Patient Insights Network RCV001535721 SCV001749811 not provided Retinitis pigmentosa 66 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-21-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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