ClinVar Miner

Submissions for variant NM_138773.4(SLC25A46):c.992T>C (p.Leu331Pro)

dbSNP: rs1580870952
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000791279 SCV000930570 likely pathogenic SLC25A46-associated optic atrophy spectrum disorder 2019-03-05 criteria provided, single submitter clinical testing
Invitae RCV002535840 SCV002957446 uncertain significance Neuropathy, hereditary motor and sensory, type 6B 2022-07-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 638588). This missense change has been observed in individual(s) with clinical features of pontocerebellar hypoplasia (PMID: 31607746). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 331 of the SLC25A46 protein (p.Leu331Pro).

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