ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) (rs762387914)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376574 SCV000630064 pathogenic Citrullinemia 2020-05-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 272 of the ASS1 protein (p.Arg272Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs762387914, ExAC 0.009%). This variant has been reported as homozygous or compound heterozygous in individuals affected with citrullinemia type I with evidence of co-segregation with disease in one family (PMID: 12815590, 7977368, 22768672). ClinVar contains an entry for this variant (Variation ID: 371132). Experimental studies have shown that this variant disrupts the function and substantially reduces the activity of the encoded enzyme in vitro (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

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