ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.806G>A (p.Arg269Gln)

gnomAD frequency: 0.00001  dbSNP: rs759581558
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623340 SCV000742819 pathogenic Inborn genetic diseases 2017-08-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000789766 SCV004035998 uncertain significance Giant axonal neuropathy 1 2023-01-26 criteria provided, single submitter clinical testing The GAN c.806G>A (p.Arg269Gln) missense variant results in the substitution of arginine at amino acid position 269 with glutamine. This variant has been reported in a homozygous state in two siblings with giant axonal neuropathy from reportedly non-consanguineous parents from the same village (PMID: 12655563). A different amino acid change at the same position, c.805C>T (p.Arg269Trp), was also reported in a compound heterozygous state with a missense variant of unknown significance in an affected female with an atypical giant axonal neuropathy phenotype (PMID: 23248352). The c.806G>A variant is reported in the Genome Aggregation Database in three alleles at a frequency of 0.000011 in the total population (version 2.1.1). Based on the available evidence, the c.806G>A (p.Arg269Gln) variant is classified as a variant of uncertain significance for giant axonal neuropathy.
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital RCV000789766 SCV004562016 likely pathogenic Giant axonal neuropathy 1 2024-02-14 criteria provided, single submitter clinical testing This variant is detected in homozyous state in a patient with a clinical diagnosis of giant axonal neuropathy, with the typical associated fizzy hair. This variant is present at extremely low frequency in population database (gnomAD v4 0.0005%). It has been reported in two siblings in a homozygous state with giant axonal neuropathy (PMID: 12655563). In silico analysis predicts this variant to be damaging (REVEL 0.78). A different amino acid change at the same position, p.(Arg269Trp), was also reported in a compound heterozygous state in patients with GAN-related conditions (PMID: 23248352, 23890932, 32999401).
Inherited Neuropathy Consortium RCV000789766 SCV000929147 likely benign Giant axonal neuropathy 1 flagged submission literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000789766 SCV004174498 uncertain significance Giant axonal neuropathy 1 2016-01-06 no assertion criteria provided literature only

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