ClinVar Miner

Submissions for variant NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter)

gnomAD frequency: 0.00001  dbSNP: rs369561869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336527 SCV001529929 pathogenic Sterol carrier protein 2 deficiency 2018-05-07 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871890 SCV002229086 pathogenic not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln371*) in the SCP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCP2 are known to be pathogenic (PMID: 16685654, 26497993). This variant is present in population databases (rs369561869, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SCP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033966). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004731130 SCV005340285 pathogenic SCP2-related disorder 2024-04-22 no assertion criteria provided clinical testing The SCP2 c.1111C>T variant is predicted to result in premature protein termination (p.Gln371*). This variant has been reported in an individual with recurrent seizures (Nangia et al. 2022. PubMed ID: 36588923). This variant is reported in 0.0026% of alleles in individuals of European (non-Finnish) descent in gnomAD. Nonsense variants in SCP2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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