ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1022G>A (p.Arg341Gln)

gnomAD frequency: 0.00004  dbSNP: rs903038605
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734372 SCV000862505 uncertain significance not provided 2018-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001278297 SCV001503542 uncertain significance Tyrosinemia type I 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 341 of the FAH protein (p.Arg341Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with FAH-related conditions. ClinVar contains an entry for this variant (Variation ID: 598073). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004027083 SCV004867058 uncertain significance Inborn genetic diseases 2023-09-26 criteria provided, single submitter clinical testing The c.1022G>A (p.R341Q) alteration is located in exon 12 (coding exon 12) of the FAH gene. This alteration results from a G to A substitution at nucleotide position 1022, causing the arginine (R) at amino acid position 341 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001278297 SCV001465297 uncertain significance Tyrosinemia type I 2020-04-24 no assertion criteria provided clinical testing

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