ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1027G>A (p.Gly343Arg)

dbSNP: rs970505762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674888 SCV000800297 likely pathogenic Tyrosinemia type I 2018-06-04 criteria provided, single submitter clinical testing
Invitae RCV000674888 SCV001405639 pathogenic Tyrosinemia type I 2019-11-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly343 amino acid residue in FAH. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12203990, 21764616). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This variant has been observed in individual(s) with tyrosinemia (PMID: 23927806). ClinVar contains an entry for this variant (Variation ID: 558592). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 343 of the FAH protein (p.Gly343Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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