ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.919C>T (p.Arg307Cys)

gnomAD frequency: 0.00009  dbSNP: rs183276875
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255358 SCV000321410 likely pathogenic not provided 2020-11-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 19006241, 24508627, 28111830, 25087612, 25433810, 14680976)
Invitae RCV001376643 SCV000630066 pathogenic Citrullinemia 2024-01-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 307 of the ASS1 protein (p.Arg307Cys). This variant is present in population databases (rs183276875, gnomAD 0.03%). This missense change has been observed in individual(s) with citrullinemia (PMID: 14680976; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 265044). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ASS1 protein function. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000558661 SCV001163595 pathogenic Citrullinemia type I criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000558661 SCV001653431 likely pathogenic Citrullinemia type I 2021-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000558661 SCV002776531 likely pathogenic Citrullinemia type I 2021-11-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000558661 SCV003825145 uncertain significance Citrullinemia type I 2022-04-26 criteria provided, single submitter clinical testing

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