ClinVar Miner

Submissions for variant NM_006517.5(SLC16A2):c.154C>T (p.Gln52Ter)

dbSNP: rs1569281085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760533 SCV000890424 pathogenic not provided 2018-01-31 criteria provided, single submitter clinical testing The Q52X nonsense variant in the SLC16A2 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q52X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, its presence is consistent with the diagnosis of an SLC16A2-related disorder in this individual.
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223412 SCV003918929 pathogenic Allan-Herndon-Dudley syndrome 2023-04-20 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003588676 SCV004247271 pathogenic Spastic paraplegia 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln52*) in the SLC16A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC16A2 are known to be pathogenic (PMID: 20083155, 25527620). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC16A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 620181). For these reasons, this variant has been classified as Pathogenic.

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