ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.1066A>G (p.Asn356Asp)

dbSNP: rs765609133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069262 SCV001234417 uncertain significance Charcot-Marie-Tooth disease type 4A 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 356 of the GDAP1 protein (p.Asn356Asp). This variant is present in population databases (rs765609133, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GDAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 695009). 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 tolerated. 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.
Genesis Genome Database RCV000857211 SCV000999795 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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