ClinVar Miner

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

dbSNP: rs104894168
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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.
OMIM RCV000001909 SCV000022067 pathogenic Combined oxidative phosphorylation defect type 2 2004-11-01 no assertion criteria provided literature only

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