ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1062+2T>G

dbSNP: rs2142107894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001795584 SCV002034799 pathogenic Tyrosinemia type I 2021-07-29 criteria provided, single submitter clinical testing The FAH c.1062+2T>G variant occurs at a canonical splice site (donor) and is therefore predicted to disrupt the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database (version 2.1.1 or version 3.1.1) in a region of good sequence coverage so the variant is presumed to be rare. Based on the available evidence, the c.1062+2T>G variant is classified as pathogenic for tyrosinemia.

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