ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.193C>T (p.Arg65Cys)

dbSNP: rs1326870463
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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 RCV001954303 SCV002241793 likely benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Clinical Genomics Laboratory, Washington University in St. Louis RCV003458806 SCV004177167 uncertain significance Developmental and epileptic encephalopathy, 41 2023-08-09 criteria provided, single submitter clinical testing The SLC1A2 c.193C>T (p.Arg65Cys) variant has not been reported in the medical literature to our knowledge. This variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors indicate that the variant is damaging, evidence that correlates with impact to SLC1A2 protein function. This variant has been submitted to ClinVar as a variant of uncertain significance by one clinical laboratory (variation ID: 1462601). Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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