ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.1634G>A (p.Arg545His)

gnomAD frequency: 0.00004  dbSNP: rs746486469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Royal Medical Services, Bahrain Defence Force Hospital RCV000789127 SCV005068370 likely pathogenic Giant axonal neuropathy 1 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000789127 SCV005839053 pathogenic Giant axonal neuropathy 1 2024-10-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 545 of the GAN protein (p.Arg545His). This variant is present in population databases (rs746486469, gnomAD 0.03%). This missense change has been observed in individual(s) with giant axonal neuropathy (PMID: 17587580, 19295179, 23248352, 30246730). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 637092). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
Inherited Neuropathy Consortium RCV000789127 SCV000928478 uncertain significance Giant axonal neuropathy 1 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000789127 SCV004174502 uncertain significance Giant axonal neuropathy 1 2016-01-06 no assertion criteria provided literature only

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