ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.319del (p.Gln107fs) (rs1564903969)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695591 SCV000824101 pathogenic Citrullinemia type I 2018-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln107Serfs*33) in the ASS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ASS1-related disease. Loss-of-function variants in ASS1 are known to be pathogenic (PMID: 18473344, 19006241). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000695591 SCV001361256 likely pathogenic Citrullinemia type I 2019-05-16 criteria provided, single submitter clinical testing Variant summary: ASS1 c.319delC (p.Gln107SerfsX33) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (c.892delG, p.Glu298fsX18; c.1030C>T, p.Arg344X). The variant was absent in 249828 control chromosomes (gnomAD). To our knowledge, no occurrence of c.319delC in individuals affected with Citrullinemia Type I and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submission from a clinical diagnostic laboratory (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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