ClinVar Miner

Submissions for variant NM_000137.4(FAH):c.1205G>A (p.Arg402His)

gnomAD frequency: 0.00092  dbSNP: rs147796599
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000341142 SCV000341285 likely benign not specified 2016-04-11 criteria provided, single submitter clinical testing
Invitae RCV000872427 SCV001014236 likely benign Tyrosinemia type I 2024-01-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000872427 SCV001276772 uncertain significance Tyrosinemia type I 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV003328319 SCV004035201 uncertain significance not provided 2021-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940037 SCV004756220 likely benign FAH-related disorder 2022-02-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000872427 SCV001456965 uncertain significance Tyrosinemia type I 2020-04-24 no assertion criteria provided clinical testing

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