ClinVar Miner

Submissions for variant NM_000137.3(FAH):c.267G>C (p.Leu89=) (rs33929922)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078136 SCV000109974 benign not specified 2012-10-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078136 SCV000302528 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000615454 SCV000394046 benign Tyrosinemia 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.
GeneDx RCV000078136 SCV000512956 benign not specified 2015-12-04 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.
Integrated Genetics/Laboratory Corporation of America RCV000588798 SCV000695444 benign not provided 2016-08-15 criteria provided, single submitter clinical testing Variant summary: The FAH c.267G>C (p.Leu89Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation Taster predicts the variant to be a polymorphism. 5/5 splice prediction tools predict no significant impact on normal splicing, however no functional studies were published at the time of evaluation. This variant was found in 9078/121340 control chromosomes (including 353 homozygotes) at a frequency of 0.0748146, which is approximately 30 times the estimated maximal expected allele frequency of a pathogenic FAH variant (0.0025), suggesting this variant is likely a benign common polymorphism. In addition, one clinical diagnostic laboratory has classified this variant as benign. Taken together, this variant is classified as Benign.
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000615454 SCV000733477 benign Tyrosinemia type I no assertion criteria provided clinical testing

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