ClinVar Miner

Submissions for variant NC_000015.9:g.(?_80452078)_(80460678_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582994 SCV005064068 pathogenic Tyrosinemia type I 2023-01-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FAH protein in which other variant(s) (p.His133Leu) have been determined to be pathogenic (PMID: 21752152). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FAH-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3-7 of the FAH gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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