ClinVar Miner

Submissions for variant NM_005262.3(GFER):c.581G>A (p.Arg194His) (rs121908192)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624237 SCV000742501 pathogenic Inborn genetic diseases 2017-07-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Baylor Genetics RCV000009228 SCV000807608 pathogenic Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with a pathogenic variant in a 13-year-old male with profound delays, tremulousness, respiratory distress, congenital ataracts, hypoglycemia, lactic acidemia, autistic features, scoliosis, pica, hypotonia, intermittent alopecia, osteoporosis, episodes of hypophosphatemia. Similarly affected sister had same compound heterozygous genotype. Heterozygotes are expected to be asymptomatic carriers.
GeneDx RCV000199876 SCV000251537 pathogenic not provided 2012-09-26 criteria provided, single submitter clinical testing p.Arg194His (CGC>CAC):c.581 G>A in exon 3 of the GFER gene (NM_005262.2). The R194H missense mutation in the GFER gene has been reported previously in 3 siblings with progressive myopathy, partial combined respiratory-chain deficiency, congenital cataract, senorineural hearing loss, and developmental delay (Di Fonzo et al., 2009). In vitro studies of the R194H mutation show that it adversely affects the stability of the GFER protein, which is located in the intermembrane space of the mitochondrion, where it plays an important role in the disulfide relay system in the mitochodria (Daithankar et al., 2010). The variant is found in MITONUC-MITOP panel(s).
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000199876 SCV000802112 pathogenic not provided 2016-03-08 no assertion criteria provided clinical testing
OMIM RCV000009228 SCV000029446 pathogenic Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 2014-12-15 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000009228 SCV000091145 not provided Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay no assertion provided not provided

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