Submissions for variant NM_054012.4(ASS1):c.349G>A (p.Gly117Ser) (rs770944877)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000671967	SCV000797014	likely pathogenic	Citrullinemia type I	2018-01-09	criteria provided, single submitter	clinical testing
Invitae	RCV001376559	SCV001217718	pathogenic	Citrullinemia	2020-08-02	criteria provided, single submitter	clinical testing	This sequence change replaces glycine with serine at codon 117 of the ASS1 protein (p.Gly117Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs770944877, ExAC 0.003%). This variant has been observed to be homozygous in several individuals affected with citrullinemia type I (PMID: 27287393, 16124451, 12815590). ClinVar contains an entry for this variant (Variation ID: 556029). This variant has been reported to affect ASS1 protein function (PMID: 27287393). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc.	RCV000671967	SCV001453080	pathogenic	Citrullinemia type I	2020-09-16	no assertion criteria provided	clinical testing

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