ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.814C>T (p.Arg272Cys)

dbSNP: rs762387914
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376574 SCV000630064 pathogenic Citrullinemia 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 272 of the ASS1 protein (p.Arg272Cys). This variant is present in population databases (rs762387914, gnomAD 0.003%). This missense change has been observed in individual(s) with citrullinemia type I with evidence of co-segregation with disease (PMID: 7977368, 12815590, 22768672). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 371132). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ASS1 protein function. Experimental studies have shown that this missense change affects ASS1 function (PMID: 8792870). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000409266 SCV001163591 pathogenic Citrullinemia type I criteria provided, single submitter clinical testing
Counsyl RCV000409266 SCV000486630 likely pathogenic Citrullinemia type I 2016-07-07 no assertion criteria provided clinical testing
Natera, Inc. RCV000409266 SCV002085095 pathogenic Citrullinemia type I 2020-12-30 no assertion criteria provided clinical testing

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