ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.460_467del (p.Phe154fs)

dbSNP: rs1004492719
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780873 SCV000918498 likely pathogenic Citrullinemia type I 2017-09-11 criteria provided, single submitter clinical testing Variant summary: The ASS1 c.460_467delTTCAAGGG (p.Phe154ProfsX3) variant results in a premature termination codon, predicted to cause a truncated or absent ASS1 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 (e.g. c.892delG, p.Glu298fsX18). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 120842 control chromosomes and has been reported in at least 2 affected individuals in the literature (Engel, 2009; Diez-Fernandez, 2017). Taken together, this variant is classified as likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001869157 SCV002234612 pathogenic Citrullinemia 2023-06-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 633047). This sequence change creates a premature translational stop signal (p.Phe154Profs*3) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with citrullinemia type I (PMID: 19006241, 28111830). This variant is also known as p.G156X. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000780873 SCV004205018 pathogenic Citrullinemia type I 2023-08-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000780873 SCV002085071 likely pathogenic Citrullinemia type I 2021-02-16 no assertion criteria provided clinical testing

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