ClinVar Miner

Submissions for variant NM_001875.5(CPS1):c.167T>G (p.Met56Arg)

gnomAD frequency: 0.00007  dbSNP: rs778958318
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667001 SCV000791386 uncertain significance Congenital hyperammonemia, type I 2017-05-09 criteria provided, single submitter clinical testing
Mendelics RCV000667001 SCV001136161 uncertain significance Congenital hyperammonemia, type I 2020-11-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000667001 SCV001303284 uncertain significance Congenital hyperammonemia, 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, 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271449 SCV002555719 uncertain significance not specified 2022-06-07 criteria provided, single submitter clinical testing
Invitae RCV000667001 SCV003276766 likely benign Congenital hyperammonemia, type I 2023-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003243005 SCV003941910 uncertain significance Inborn genetic diseases 2023-03-29 criteria provided, single submitter clinical testing The c.167T>G (p.M56R) alteration is located in exon 2 (coding exon 2) of the CPS1 gene. This alteration results from a T to G substitution at nucleotide position 167, causing the methionine (M) at amino acid position 56 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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