ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.3031_3033GTG[2] (p.Val1013del) (rs727502824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000149915 SCV001205870 pathogenic Congenital hyperammonemia, type I 2019-12-23 criteria provided, single submitter clinical testing This variant, c.3037_3039del, results in the deletion of 1 amino acid(s) of the CPS1 protein (p.Val1013del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with carbamoyl phosphate synthetase I deficiency (PMID: 25410056, 12655559, 22575620). This variant is also known as c.3036_3038delGGT in the literature. ClinVar contains an entry for this variant (Variation ID: 162525). This variant has been reported to affect CPS1 protein function (PMID: 25410056). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000149915 SCV000196766 pathogenic Congenital hyperammonemia, type I 2014-12-01 no assertion criteria provided literature only

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