ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1180+1G>A

dbSNP: rs980415517
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004598 SCV001163767 pathogenic Tyrosinemia type I criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001004598 SCV003323921 pathogenic Tyrosinemia type I 2022-03-09 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the FAH gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 813493). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the FAH protein in which other variant(s) (p.Gly404Ser) have been determined to be pathogenic (PMID: 21117323, 27814443; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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