ClinVar Miner

Submissions for variant NM_000137.3(FAH):c.700T>G (p.Trp234Gly) (rs1555441595)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670317 SCV000795155 uncertain significance Tyrosinemia type I 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV000670317 SCV001576057 likely pathogenic Tyrosinemia type I 2020-09-26 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with glycine at codon 234 of the FAH protein (p.Trp234Gly). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with tyrosinemia type 1 (PMID: 7550234). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554643). This variant has been reported to affect FAH protein function (PMID: 7550234, 11278491, 31300554). 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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