ClinVar Miner

Submissions for variant NM_002894.3(RBBP8):c.293A>G (p.His98Arg)

gnomAD frequency: 0.00004  dbSNP: rs146649234
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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 RCV001867436 SCV002135259 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 98 of the RBBP8 protein (p.His98Arg). This variant is present in population databases (rs146649234, gnomAD 0.02%). 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: 1368312). 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 expected to disrupt RBBP8 protein function with a positive predictive value of 80%. 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 RCV002482558 SCV002789595 uncertain significance Jawad syndrome; Seckel syndrome 2 2022-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002550420 SCV003732951 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.293A>G (p.H98R) alteration is located in exon 5 (coding exon 4) of the RBBP8 gene. This alteration results from a A to G substitution at nucleotide position 293, causing the histidine (H) at amino acid position 98 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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