ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)

gnomAD frequency: 0.00072  dbSNP: rs148713374
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335994 SCV001529262 uncertain significance Jawad syndrome 2018-05-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV001820030 SCV002068686 uncertain significance not specified 2019-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865841 SCV002147749 uncertain significance not provided 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 716 of the RBBP8 protein (p.Glu716Lys). This variant is present in population databases (rs148713374, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with RBBP8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033552). 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 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.
Fulgent Genetics, Fulgent Genetics RCV002486342 SCV002783451 uncertain significance Jawad syndrome; Seckel syndrome 2 2022-03-28 criteria provided, single submitter clinical testing

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