ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) (rs1569282905)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756453 SCV000884273 uncertain significance not provided 2017-12-28 criteria provided, single submitter clinical testing The OTC c.1019C>T; p.Ser340Phe variant is not reported in the medical literature, gene-specific variant databases, or in the ClinVar database. The variant is not listed in the dbSNP variant database or in the general population databases (Exome Variant Server, Genome Aggregation Database). Another variant in the same codon, p.Ser340Pro, is reported in the medical literature in two individuals with OTC deficiency (Martin-Hernandez 2014, Oppliger Leibundgut 1997). The serine at this position is moderately conserved and computational algorithms (PolyPhen2, SIFT) predict the variant is deleterious. Considering available information, the clinical significance of this variant cannot be determined with certainty. References: Martin-Hernandez E et al. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases. Orphanet J Rare Dis. 2014 Nov 30;9:187. Oppliger Leibundgut E et al. Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females. Hum Mutat. 1997;9(5):409-11.

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