ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.450_451del (p.Phe150fs)

dbSNP: rs786204648
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169436 SCV000220852 likely pathogenic Citrullinemia type I 2014-11-06 criteria provided, single submitter literature only
Labcorp Genetics (formerly Invitae), Labcorp RCV002228612 SCV000630058 pathogenic Citrullinemia 2023-07-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189044). This premature translational stop signal has been observed in individual(s) with citrullinemia type I (PMID: 19006241; Invitae). This variant is present in population databases (rs765638698, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Phe150Leufs*9) in the ASS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASS1 are known to be pathogenic (PMID: 18473344, 19006241).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002228612 SCV000694164 likely pathogenic Citrullinemia 2022-11-08 criteria provided, single submitter clinical testing Variant summary: ASS1 c.450_451delCT (p.Phe150LeufsX9) 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. The variant was absent in 251338 control chromosomes (gnomAD). c.450_451delCT has been reported in the literature in individuals affected with Citrullinemia Type I (examples: Engel_2009, Diez-Fernandez_2017). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV000169436 SCV004203238 pathogenic Citrullinemia type I 2023-06-03 criteria provided, single submitter clinical testing

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