ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.319A>G (p.Met107Val)

dbSNP: rs1032909804
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822725 SCV000963540 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-07-11 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 107 of the SLC25A22 protein (p.Met107Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC25A22-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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