ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.535C>T (p.Arg179Trp)

gnomAD frequency: 0.00002  dbSNP: rs574361397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001871310 SCV002152905 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-08-30 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SLC25A22 protein function. ClinVar contains an entry for this variant (Variation ID: 1385239). This variant has not been reported in the literature in individuals affected with SLC25A22-related conditions. This variant is present in population databases (rs574361397, gnomAD 0.004%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 179 of the SLC25A22 protein (p.Arg179Trp).
Ambry Genetics RCV002553480 SCV003671967 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.535C>T (p.R179W) 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 535, causing the arginine (R) at amino acid position 179 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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