ClinVar Miner

Submissions for variant NM_000137.3(FAH):c.1141A>G (p.Arg381Gly) (rs121965077)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000012647 SCV001206349 likely pathogenic Tyrosinemia type I 2019-04-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 381 of the FAH protein (p.Arg381Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine 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: 7757089, Invitae). 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: 11872). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this allele has been classified as Likely Pathogenic.
OMIM RCV000012647 SCV000032882 pathogenic Tyrosinemia type I 1995-02-01 no assertion criteria provided literature only

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