ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.482G>A (p.Arg161His) (rs104894076)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200307 SCV001371229 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Invitae RCV000004412 SCV001516849 uncertain significance Charcot-Marie-Tooth disease, type 4A 2020-06-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 161 of the GDAP1 protein (p.Arg161His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 11743579, 14561495, 25231362). ClinVar contains an entry for this variant (Variation ID: 4192). This variant has been reported to affect GDAP1 protein function (PMID: 16172208, 18021315, 21890626, 28220846). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000004412 SCV000024585 pathogenic Charcot-Marie-Tooth disease, type 4A 2002-01-01 no assertion criteria provided literature only

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