ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.452C>T (p.Ser151Leu)

gnomAD frequency: 0.00002  dbSNP: rs750386693
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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 RCV000528273 SCV000634008 uncertain significance Developmental and epileptic encephalopathy 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 151 of the SLC25A22 protein (p.Ser151Leu). This variant is present in population databases (rs750386693, gnomAD 0.05%). 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: 461376). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001584262 SCV001820194 uncertain significance not provided 2019-05-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004023851 SCV004950314 uncertain significance Inborn genetic diseases 2023-12-11 criteria provided, single submitter clinical testing The c.452C>T (p.S151L) alteration is located in exon 7 (coding exon 6) of the SLC25A22 gene. This alteration results from a C to T substitution at nucleotide position 452, causing the serine (S) at amino acid position 151 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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