ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.2752_2763del (p.914CVSP[1])

dbSNP: rs772966955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001238794 SCV001411623 uncertain significance Epileptic encephalopathy 2023-05-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 964550). This variant has not been reported in the literature in individuals affected with GABBR2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.2752_2763del, results in the deletion of 4 amino acid(s) of the GABBR2 protein (p.Cys918_Pro921del), but otherwise preserves the integrity of the reading frame.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225744 SCV003807207 uncertain significance Developmental and epileptic encephalopathy, 59 2022-03-02 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PM4
GenomeConnect-Association for Creatine Deficiencies, Association for Creatine Deficiencies RCV005225322 SCV005870983 not provided Neurodevelopmental disorder with poor language and loss of hand skills no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 02-14-2020 by Macrogen. GenomeConnect-Association for Creatine Deficiencies assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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