ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.562_563del (p.Gly188fs)

dbSNP: rs796052016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186071 SCV000239042 pathogenic not provided 2014-08-29 criteria provided, single submitter clinical testing The c.562_563delGG mutation in the OTC gene has been reported previously in association with OTC deficiency (Shchelochkov et al., 2009). The deletion causes a frameshift starting with codon Glycine 188, changes this amino acid to a Serine residue and creates a premature Stop codon at position 36 of the new reading frame, denoted p.Gly188SerfsX36. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in OTC panel(s).

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