Submissions for variant NM_054012.4(ASS1):c.1101G>A (p.Leu367=)

gnomAD frequency: 0.00128  dbSNP: rs139031154

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000377334	SCV000341300	likely benign	not specified	2016-04-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347561	SCV000477637	uncertain significance	Citrullinemia type I	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000377334	SCV000713963	likely benign	not specified	2017-07-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001507139	SCV001018069	benign	Citrullinemia	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726087	SCV001962579	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	ASS1: BP4, BP7
Natera, Inc.	RCV000347561	SCV001457314	likely benign	Citrullinemia type I	2020-04-13	no assertion criteria provided	clinical testing