ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.836G>A (p.Arg279Gln) (rs371265106)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
Invitae RCV001290025 SCV000816577 pathogenic Citrullinemia 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 279 of the ASS1 protein (p.Arg279Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs371265106, ExAC 0.009%). This variant has been observed as homozygous or on the opposite chromosome (in trans) from other pathogenic variant in individuals affected with citrulllinemia type I (PMID: 9090528, 16475226, 23099195, Invitae). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 92375). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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

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