ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.484C>T (p.Arg162Ter)

dbSNP: rs1300267158
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000789758 SCV002229246 pathogenic Giant axonal neuropathy 1 2023-07-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg162*) in the GAN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GAN are known to be pathogenic (PMID: 12655563, 14718689, 23890932). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with giant axonal neuropathy (PMID: 21356581, 30532362). ClinVar contains an entry for this variant (Variation ID: 637530). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789758 SCV000929137 uncertain significance Giant axonal neuropathy 1 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000789758 SCV004174494 uncertain significance Giant axonal neuropathy 1 2016-01-06 no assertion criteria provided literature only

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