ClinVar Miner

Submissions for variant NM_000045.4(ARG1):c.80G>A (p.Gly27Asp)

dbSNP: rs1326930389
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665999 SCV000790229 uncertain significance Arginase deficiency 2017-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000665999 SCV001592148 pathogenic Arginase deficiency 2020-08-07 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with arginase deficiency (PMID: 22959135, Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 551041). This sequence change replaces glycine with aspartic acid at codon 27 of the ARG1 protein (p.Gly27Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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