ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.53C>T (p.Ser18Leu)

gnomAD frequency: 0.00001  dbSNP: rs121908643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000006703 SCV001163216 likely pathogenic Citrullinemia type I criteria provided, single submitter clinical testing
Invitae RCV002512847 SCV003441465 pathogenic Citrullinemia 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 18 of the ASS1 protein (p.Ser18Leu). This variant is present in population databases (rs121908643, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of ASS1-related conditions (PMID: 1943692, 31208364; Invitae). ClinVar contains an entry for this variant (Variation ID: 6331). 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) performed at Invitae indicates that this missense variant is expected to disrupt ASS1 protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006703 SCV000026894 pathogenic Citrullinemia type I 1991-02-01 no assertion criteria provided literature only
Counsyl RCV000006703 SCV000800552 uncertain significance Citrullinemia type I 2017-06-13 flagged submission clinical testing

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