ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) (rs121908636)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000006696 SCV000845427 likely pathogenic Citrullinemia type I 2018-08-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV000006696 SCV001163215 pathogenic Citrullinemia type I criteria provided, single submitter clinical testing
Invitae RCV001376548 SCV001208612 likely pathogenic Citrullinemia 2020-02-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 14 of the ASS1 protein (p.Gly14Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs121908636, ExAC 0.03%). This variant has been observed in several individuals affected with citrullinemia type I (PMID: 2358466, 27287393, 14680976, 28111830, 23246278). ClinVar contains an entry for this variant (Variation ID: 6324). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
OMIM RCV000006696 SCV000026887 pathogenic Citrullinemia type I 2013-04-04 no assertion criteria provided literature only

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