Submissions for variant NM_000066.4(C8B):c.1653G>A (p.Trp551Ter)

gnomAD frequency: 0.00001  dbSNP: rs752357132

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001868288	SCV002175912	uncertain significance	not provided	2023-12-11	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp551*) in the C8B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acid(s) of the C8B protein. This variant is present in population databases (rs752357132, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with C8B-related conditions. ClinVar contains an entry for this variant (Variation ID: 559594). 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.
Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology	RCV000677371	SCV000803432	uncertain significance	Type II complement component 8 deficiency		no assertion criteria provided	reference population