ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.501C>T (p.His167=)

gnomAD frequency: 0.12154  dbSNP: rs10901072
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078021 SCV000109859 benign not specified 2012-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000078021 SCV000167049 benign not specified 2013-06-18 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.
PreventionGenetics, part of Exact Sciences RCV000078021 SCV000301640 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000276414 SCV000477624 benign Citrullinemia type I 2018-01-13 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521373 SCV001730707 benign Citrullinemia 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000276414 SCV001748480 benign Citrullinemia type I 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717940 SCV005323380 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000078021 SCV000150344 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV000276414 SCV002085074 benign Citrullinemia type I 2017-03-28 no assertion criteria provided clinical testing

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