ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) (rs200725073)

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Total submissions: 2
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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

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