ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) (rs777828000)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000190357 SCV000796863 likely pathogenic Citrullinemia type I 2018-01-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000190357 SCV001163229 pathogenic Citrullinemia type I criteria provided, single submitter clinical testing
Invitae RCV001376580 SCV001211484 pathogenic Citrullinemia 2020-05-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 191 of the ASS1 protein (p.Glu191Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs777828000, ExAC 0.02%). This variant has been observed to be homozygous in individuals affected with citrullinemia (PMID: 12815590, 24713661, 28111830, Invitae). ClinVar contains an entry for this variant (Variation ID: 208153). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000190357 SCV000153773 pathogenic Citrullinemia type I 2014-05-25 no assertion criteria provided clinical testing Homozygous missense mutation in the ASS1 gene.
Natera, Inc. RCV000190357 SCV001453086 pathogenic Citrullinemia type I 2020-09-16 no assertion criteria provided clinical testing

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