ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.877C>T (p.Arg293Ter)

gnomAD frequency: 0.00001  dbSNP: rs370358470
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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 RCV000789764 SCV001396490 pathogenic Giant axonal neuropathy 1 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg293*) 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 present in population databases (rs370358470, gnomAD 0.06%). This premature translational stop signal has been observed in individuals with giant axonal neuropathy (PMID: 15897506). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 637536). For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789764 SCV000929145 uncertain significance Giant axonal neuropathy 1 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000789764 SCV004174489 uncertain significance Giant axonal neuropathy 1 2020-12-22 no assertion criteria provided literature only

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