ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.539G>T (p.Ser180Ile) (rs121908638)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376549 SCV000630061 likely pathogenic Citrullinemia 2020-02-20 criteria provided, single submitter clinical testing This sequence change replaces serine with isoleucine at codon 180 of the ASS1 protein (p.Ser180Ile). The serine residue is highly conserved and there is a large physicochemical difference between serine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with citrullinemia (PMID: 24889030, Invitae). ClinVar contains an entry for this variant (Variation ID: 458674). This variant has been reported to affect ASS1 protein function (PMID: 27287393). This variant disrupts the p.Ser180 amino acid residue in ASS1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 2358466, Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Baylor Genetics RCV000529881 SCV001163228 likely pathogenic Citrullinemia type I criteria provided, single submitter clinical testing
Natera, Inc. RCV000529881 SCV001453085 likely pathogenic Citrullinemia type I 2020-09-16 no assertion criteria provided clinical testing

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