ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.53C>T (p.Pro18Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001270865 SCV001451640 likely pathogenic Tyrosinemia type I 2020-09-04 criteria provided, single submitter clinical testing The FAH c.53C>T (p.Pro18Leu) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database and is in a region of good sequence coverage, so the variant is presumed to be rare. Based on its rarity and identification in trans with another FAH pathogenic variant, the p.Pro18Leu variant is classified as likely pathogenic for tyrosinemia, type I.

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