ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.838+1G>T

gnomAD frequency: 0.00001  dbSNP: rs750214431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670816 SCV000795719 likely pathogenic Citrullinemia type I 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV001376572 SCV000963250 pathogenic Citrullinemia 2023-07-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 555072). Disruption of this splice site has been observed in individuals with citrullinemia type 1 (PMID: 19006241, 28111830). This variant is present in population databases (rs750214431, gnomAD 0.002%). This sequence change affects a donor splice site in intron 12 of the ASS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ASS1 are known to be pathogenic (PMID: 18473344, 19006241).
Baylor Genetics RCV000670816 SCV004202548 pathogenic Citrullinemia type I 2023-10-09 criteria provided, single submitter clinical testing

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