Submissions for variant NM_002894.3(RBBP8):c.1223_1228del (p.Ile408_Asn409del)

dbSNP: rs757747543

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000503080	SCV000596724	uncertain significance	not specified	2016-01-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002524281	SCV003520008	uncertain significance	not provided	2022-08-03	criteria provided, single submitter	clinical testing	This variant, c.1223_1228del, results in the deletion of 2 amino acid(s) of the RBBP8 protein (p.Ile408_Asn409del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757747543, gnomAD 0.006%). 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: 436511). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
3billion	RCV004722839	SCV005328779	likely benign	Jawad syndrome; Seckel syndrome 2	2024-09-20	criteria provided, single submitter	clinical testing	The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV004820854	SCV005442175	uncertain significance	Seckel syndrome 2	2024-12-19	criteria provided, single submitter	clinical testing