ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.838+1G>T (rs750214431)

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Total submissions: 2
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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 2020-10-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 12 of the ASS1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs750214431, ExAC 0.002%). Disruptions of this splice site have been observed in individuals affected with citrullinemia type 1 (PMID: 19006241, 28111830). ClinVar contains an entry for this variant (Variation ID: 555072). Donor and acceptor splice site variants 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). For these reasons, this variant has been classified as Pathogenic.

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