ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.462+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208013 SCV001379383 pathogenic Neuropathy, hereditary motor and sensory, type 6B 2019-06-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the SLC25A46 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be in trans (on the opposite chromosome) from a pathogenic variant and to segregate with pontocerebellar hypoplasia in a family (PMID: 28653766). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SLC25A46 are known to be pathogenic (PMID: 26168012, 26951855, 27543974). For these reasons, this variant has been classified as Pathogenic.

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