ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)

gnomAD frequency: 0.00021  dbSNP: rs369234115
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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 RCV002020843 SCV002299720 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 643 of the RBBP8 protein (p.Gln643Pro). This variant is present in population databases (rs369234115, gnomAD 0.03%). 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: 1515094). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RBBP8 protein function with a negative predictive value of 80%. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on RBBP8 function (PMID: 32379725). 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 RCV002486719 SCV002784962 uncertain significance Jawad syndrome; Seckel syndrome 2 2021-11-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002548814 SCV003712588 uncertain significance Inborn genetic diseases 2021-09-02 criteria provided, single submitter clinical testing The c.1928A>C (p.Q643P) alteration is located in exon 12 (coding exon 11) of the RBBP8 gene. This alteration results from a A to C substitution at nucleotide position 1928, causing the glutamine (Q) at amino acid position 643 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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