ClinVar Miner

Submissions for variant NM_000137.3(FAH):c.548_553+20del (rs768180953)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000801084 SCV000940842 likely pathogenic Tyrosinemia type I 2018-11-05 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 6 (c.548_553+20del) of the FAH gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with FAH-related disease. Loss-of-function variants in FAH are known to be pathogenic (PMID: 9101289, 9633815). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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