ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) (rs143558324)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724756 SCV000229073 uncertain significance not provided 2015-04-21 criteria provided, single submitter clinical testing
GeneDx RCV000724756 SCV000242420 uncertain significance not provided 2018-11-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCARB2 gene. The P128A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 82/24022 (0.34%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The P128A variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Athena Diagnostics Inc RCV000188796 SCV000615019 likely benign not specified 2016-11-30 criteria provided, single submitter clinical testing
Invitae RCV000638328 SCV000759822 likely benign Progressive myoclonic epilepsy 2017-12-18 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768074 SCV000898945 uncertain significance Epilepsy, progressive myoclonic 4, with or without renal failure 2018-09-05 criteria provided, single submitter clinical testing SCARB2 NM_005506.3 exon 3 p.Pro128Ala (c.382C>G): This variant has not been reported in the literature but is present in 0.3% (82/24022) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs143558324). This variant is present in ClinVar (Variation ID:196412). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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