ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.413G>A (p.Arg138His)

dbSNP: rs119485092
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000005338 SCV001587497 pathogenic Giant axonal neuropathy 1 2022-07-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GAN function (PMID: 24758703). ClinVar contains an entry for this variant (Variation ID: 5035). This missense change has been observed in individual(s) with a mild form of giant axonal neuropathy (PMID: 11053687, 11062483). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs119485092, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 138 of the GAN protein (p.Arg138His).
OMIM RCV000005338 SCV000025516 pathogenic Giant axonal neuropathy 1 2000-12-01 no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV000005338 SCV000929143 uncertain significance Giant axonal neuropathy 1 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000005338 SCV004174514 uncertain significance Giant axonal neuropathy 1 2016-01-06 no assertion criteria provided literature only

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