ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.460_467del (p.Phe154fs) (rs1004492719)

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Total submissions: 1
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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.

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