Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV001004597 | SCV001163761 | pathogenic | Tyrosinemia type I | 2024-02-19 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001004597 | SCV002162373 | pathogenic | Tyrosinemia type I | 2023-02-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 813492). This premature translational stop signal has been observed in individual(s) with tyrosinemia type I (PMID: 12203990). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln328*) in the FAH gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001004597 | SCV005884284 | pathogenic | Tyrosinemia type I | 2024-12-26 | criteria provided, single submitter | clinical testing | Variant summary: FAH c.982C>T (p.Gln328X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 8e-06 in 248840 control chromosomes (gnomAD). c.982C>T has been reported in the literature in individuals affected with Tyrosinemia Type 1 (e.g. Couce_2011). The following publication has been ascertained in the context of this evaluation (PMID: 21752152). ClinVar contains an entry for this variant (Variation ID: 813492). Based on the evidence outlined above, the variant was classified as pathogenic. |