ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.951del (p.Phe317fs)

dbSNP: rs775791516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674984 SCV000800404 likely pathogenic Citrullinemia type I 2018-06-05 criteria provided, single submitter clinical testing
Invitae RCV002544676 SCV003441499 pathogenic Citrullinemia 2022-11-02 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with citrullinaemia (PMID: 25537548). This variant is present in population databases (rs775791516, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Phe317Leufs*59) 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). ClinVar contains an entry for this variant (Variation ID: 558680). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000674984 SCV004205690 pathogenic Citrullinemia type I 2022-07-12 criteria provided, single submitter clinical testing

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