ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.928A>C (p.Lys310Gln)

gnomAD frequency: 0.00001  dbSNP: rs121908648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000006711 SCV000800568 uncertain significance Citrullinemia type I 2017-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512848 SCV003441392 likely pathogenic Citrullinemia 2022-02-20 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Lys310 amino acid residue in ASS1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12815590, 15863597; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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"). ClinVar contains an entry for this variant (Variation ID: 6339). This missense change has been observed in individual(s) with citrullinemia type I (PMID: 12815590, 15266621). This variant is present in population databases (rs121908648, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 310 of the ASS1 protein (p.Lys310Gln).
OMIM RCV000006711 SCV000026902 pathogenic Citrullinemia type I 2004-08-15 no assertion criteria provided literature only

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