ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)

gnomAD frequency: 0.00068  dbSNP: rs142220309
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727499 SCV000242955 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727499 SCV000709152 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080737 SCV001009555 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-05 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000727499 SCV001713549 uncertain significance not provided 2020-05-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002054230 SCV002495960 uncertain significance Developmental and epileptic encephalopathy, 3 2021-05-16 criteria provided, single submitter clinical testing SLC25A22 NM_024698.5 exon 3 p.Thr47Met (c.140C>T): This variant has not been reported in the literature but is present in 0.2% (80/41470) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/11-794782-G-A?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:207161). Evolutionary conservation suggests that this variant may not impact the protein; computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002390499 SCV002699240 uncertain significance Inborn genetic diseases 2020-09-30 criteria provided, single submitter clinical testing The p.T47M variant (also known as c.140C>T), located in coding exon 2 of the SLC25A22 gene, results from a C to T substitution at nucleotide position 140. The threonine at codon 47 is replaced by methionine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV000727499 SCV002770529 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing

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