Submissions for variant NM_016065.4(MRPS16):c.331C>T (p.Arg111Ter)

dbSNP: rs104894168

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002512661	SCV003441632	uncertain significance	not provided	2022-04-07	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs104894168, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of combined oxidative phosphorylation deficiency (PMID: 15505824, 28749478). ClinVar contains an entry for this variant (Variation ID: 1835). Studies have shown that this premature translational stop signal alters MRPS16 gene expression (PMID: 18539099). 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. This sequence change creates a premature translational stop signal (p.Arg111*) in the MRPS16 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the MRPS16 protein.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000001909	SCV005373837	uncertain significance	Combined oxidative phosphorylation defect type 2	2024-09-22	criteria provided, single submitter	clinical testing
OMIM	RCV000001909	SCV000022067	pathogenic	Combined oxidative phosphorylation defect type 2	2004-11-01	no assertion criteria provided	literature only