Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055971 | SCV001220386 | uncertain significance | Charcot-Marie-Tooth disease, type 4A | 2019-12-30 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with aspartic acid at codon 327 of the GDAP1 protein (p.Gly327Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal recessive Charcot-Marie-Tooth disease (PMID: 21365284). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 40049). This variant has been reported to affect GDAP1 protein function (PMID: 21365284). 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 | RCV000033148 | SCV000056930 | pathogenic | Charcot-Marie-Tooth disease, recessive intermediate A | 2011-05-01 | no assertion criteria provided | literature only |