ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) (rs786204537)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169239 SCV000220513 likely pathogenic Citrullinemia type I 2014-07-15 criteria provided, single submitter literature only
Invitae RCV000169239 SCV000954094 pathogenic Citrullinemia type I 2018-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg344*) 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 been observed as homozygous or in combination with another ASS1 variant in several individuals affected with citrullinemia (PMID: 28111830). ClinVar contains an entry for this variant (Variation ID: 188885). Loss-of-function variants in ASS1 are known to be pathogenic (PMID: 18473344, 19006241). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000169239 SCV001163600 pathogenic Citrullinemia type I criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169239 SCV001363611 pathogenic Citrullinemia type I 2019-04-25 criteria provided, single submitter clinical testing Variant summary: ASS1 c.1030C>T (p.Arg344X) 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. The variant allele was found at a frequency of 4e-06 in 251214 control chromosomes (gnomAD). c.1030C>T has been reported in the literature in compound heterozygote and homozygote individuals affected with Citrullinemia Type I (Diez-Fernandez_2017, Engel_2009). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Natera, Inc. RCV000169239 SCV001453092 pathogenic Citrullinemia type I 2020-09-16 no assertion criteria provided clinical testing

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