ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.608C>T (p.Ser203Phe)

dbSNP: rs72558410
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590045 SCV000697251 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing Variant summary: The OTC c.608C>T (p.Ser203Phe) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 87525 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001089878 SCV001984799 likely pathogenic Ornithine carbamoyltransferase deficiency 2020-09-07 criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge. However, a different variant affecting the same amino acid residue, c.608C>G (p.Ser203Cys), has been previously reported in an individual with Ornithine Transcarbamylase (OTC) Deficiency (PMID: 8019569). It is absent from the gnomAD population database and thus is presumed to be rare. The c.608C>T (p.Ser203Phe) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.608C>T (p.Ser203Phe) variant is classified as Likely Pathogenic.
Genome-Nilou Lab RCV001089878 SCV002033198 uncertain significance Ornithine carbamoyltransferase deficiency 2021-11-07 criteria provided, single submitter clinical testing
Molecular Genetics laboratory, Necker Hospital RCV001089878 SCV001197273 pathogenic Ornithine carbamoyltransferase deficiency no assertion criteria provided clinical testing 1 boy with a neonatal form

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