ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.46G>A (p.Gly16Ser)

gnomAD frequency: 0.00006  dbSNP: rs149569043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065873 SCV001230860 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-08-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 16 of the SLC25A22 protein (p.Gly16Ser). This variant is present in population databases (rs149569043, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SLC25A22-related conditions. ClinVar contains an entry for this variant (Variation ID: 560664). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV003163075 SCV003891222 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.46G>A (p.G16S) alteration is located in exon 3 (coding exon 2) of the SLC25A22 gene. This alteration results from a G to A substitution at nucleotide position 46, causing the glycine (G) at amino acid position 16 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000678847 SCV000805038 uncertain significance Seizure 2017-09-01 no assertion criteria provided clinical testing

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