ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.773+49C>T

gnomAD frequency: 0.00001  dbSNP: rs763389916
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000256264 SCV000791132 likely pathogenic Citrullinemia type I 2017-05-02 criteria provided, single submitter clinical testing
Invitae RCV002521863 SCV003513830 pathogenic Citrullinemia 2023-12-12 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the ASS1 gene. It does not directly change the encoded amino acid sequence of the ASS1 protein. This variant is present in population databases (rs763389916, gnomAD 0.02%). This variant has been observed in individuals with citrullinemia (PMID: 14680976, 28132756). ClinVar contains an entry for this variant (Variation ID: 265958). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000256264 SCV004205668 pathogenic Citrullinemia type I 2022-08-20 criteria provided, single submitter clinical testing
GeneReviews RCV000256264 SCV000323090 not provided Citrullinemia type I no assertion provided literature only

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