ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) (rs1375304341)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000589986 SCV000697875 likely pathogenic Congenital hyperammonemia, type I 2017-04-06 criteria provided, single submitter clinical testing Variant summary: The CPS1 c.2883_2895del13 (p.Tyr962Serfs) variant results in a premature termination codon, predicted to cause a truncated or absent CPS1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant is absent in 114316 control chromosomes. A publication, Eeds_2006, which is referred to by multiple databases such as HGMD cites a variant, c.3006_3018del13, believed to be the variant of interest to have been found in a homozygous affected individual. The variant of interest has not, to our knowledge, been reported by clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as "likely pathogenic."

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