ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.433C>A (p.Gln145Lys) (rs753584565)

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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 RCV000757583 SCV000885872 uncertain significance not provided 2018-01-26 criteria provided, single submitter clinical testing The OTC c.433C>A; p.Gln145Lys variant (rs753584565) is not reported in the medical literature or gene specific variant databases. This variant is found in the general population at a low overall frequency of 0.002% (3/173462 alleles) in the Genomes Aggregation Database, but is considered a low confidence variant in the database. The glutamine at codon 145 is moderately conserved but computational algorithms (SIFT: Damaging; score=0, PolyPhen2: Benign; score=0.153, MutationTaster: disease causing p=0.1, Align GVGD: Class C0) do not agree as to the effect this variant may have on the protein. Due to the limited information regarding this variant, its clinical significance cannot be determined with certainty.

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