ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.836G>A (p.Arg279Gln)

gnomAD frequency: 0.00002  dbSNP: rs371265106
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723467 SCV000109865 pathogenic not provided 2012-10-08 criteria provided, single submitter clinical testing
Counsyl RCV000078027 SCV000486451 likely pathogenic Citrullinemia type I 2016-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001290025 SCV000816577 pathogenic Citrullinemia 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 279 of the ASS1 protein (p.Arg279Gln). This variant is present in population databases (rs371265106, gnomAD 0.01%). This missense change has been observed in individual(s) with citrulllinemia type I (PMID: 9090528, 16475226, 23099195; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 92375). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723467 SCV000883418 likely pathogenic not provided 2017-05-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000078027 SCV001520228 pathogenic Citrullinemia type I 2024-02-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000078027 SCV002808243 pathogenic Citrullinemia type I 2021-07-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000078027 SCV004238479 likely pathogenic Citrullinemia type I 2023-04-06 criteria provided, single submitter clinical testing

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