Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000412631 | SCV001231156 | uncertain significance | Neuropathy, hereditary motor and sensory, type 6B | 2019-10-21 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with aspartic acid at codon 249 of the SLC25A46 protein (p.Gly249Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs200725073, ExAC 0.009%). This variant has been observed to segregate with optic atrophy and axonal peripheral neuropathy in a family (PMID: 27543974). ClinVar contains an entry for this variant (Variation ID: 372238). This variant has been reported not to substantially affect SLC25A46 protein function (PMID: 27543974). 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 | RCV000412631 | SCV000490313 | pathogenic | Neuropathy, hereditary motor and sensory, type 6B | 2017-01-14 | no assertion criteria provided | literature only |