ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.1128-1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004018192 SCV004848726 likely pathogenic Citrullinemia type I 2022-08-26 criteria provided, single submitter clinical testing The c.1128-1delG in ASS1 has been not been previoulsy reported in individuals with citrullinemia and was absent from large population databases. This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the ASS1 gene is an established disease mechanism in autosomal recessive citrullinemia. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive citrullinemia. ACMG/AMP criteria applied: PVS1, PM2_Supporting.

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