ClinVar Miner

Submissions for variant NM_000050.4(ASS1):c.-4C>T (rs138350285)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185790 SCV000238726 likely pathogenic not provided 2016-09-14 criteria provided, single submitter clinical testing The c.-4 C>T variant in the ASS1 gene has previously been reported in association with citrullinemia type I (Engel et al., 2009). The c.-4 C>T variant was not observed at any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although the c.-4 C>T variant occurs at a position that is not highly conserved, it alters the Kozak consensus sequence, which plays an important role in the initiation of protein translation. Therefore, we interpret c.-4 C>T to be a likely pathogenic variant.
Invitae RCV000541100 SCV000630059 uncertain significance Citrullinemia type I 2016-09-15 criteria provided, single submitter clinical testing

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