ClinVar Miner

Submissions for variant NM_018972.4(GDAP1):c.169A>C (p.Ser57Arg)

dbSNP: rs863224774
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198483 SCV000255034 likely pathogenic Charcot-Marie-Tooth disease type 4A 2023-08-30 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. ClinVar contains an entry for this variant (Variation ID: 216706). This missense change has been observed in individuals with autosomal dominant Charcot-Marie-Tooth disease (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 57 of the GDAP1 protein (p.Ser57Arg).
Mayo Clinic Laboratories, Mayo Clinic RCV002261007 SCV002540956 uncertain significance not provided 2021-04-15 criteria provided, single submitter clinical testing

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