ClinVar Miner

Submissions for variant NM_004218.4(RAB11B):c.15C>G (p.Asp5Glu)

gnomAD frequency: 0.00001  dbSNP: rs763624059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001875256 SCV002152532 uncertain significance not provided 2025-02-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 5 of the RAB11B protein (p.Asp5Glu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with RAB11B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1386266). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV005262577 SCV005929155 uncertain significance Inborn genetic diseases 2025-01-27 criteria provided, single submitter clinical testing The c.15C>G (p.D5E) alteration is located in exon 1 (coding exon 1) of the RAB11B gene. This alteration results from a C to G substitution at nucleotide position 15, causing the aspartic acid (D) at amino acid position 5 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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