ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1A>C (p.Met1Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376937 SCV001574137 likely pathogenic Tyrosinemia type I 2020-07-09 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the FAH mRNA. The next in-frame methionine is located at codon 71. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FAH-related conditions. A different variant (c.1A>G) giving rise to the same protein effect observed here (p.Met1?) has been determined to be pathogenic (PMID: 21764616, 22802474, 24016420). This suggests that this variant is also likely to be causative of disease. 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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