ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) (rs746681765)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000412506 SCV001381774 pathogenic Neuropathy, hereditary motor and sensory, type 6B 2019-09-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 340 of the SLC25A46 protein (p.Arg340Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs746681765, ExAC 0.007%). This variant has been observed to segregate with clinical features of SLC25A46-related conditions in families (PMID: 28369803, 26168012, 28558379). ClinVar contains an entry for this variant (Variation ID: 372242). This variant has been reported to affect SLC25A46 protein function (PMID: 27543974). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000412506 SCV000490317 pathogenic Neuropathy, hereditary motor and sensory, type 6B 2017-01-14 no assertion criteria provided literature only

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