ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV003335875 SCV004046071 likely pathogenic Developmental and epileptic encephalopathy, 64 criteria provided, single submitter clinical testing This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the gnomAD population database and thus is presumed to be rare. The c.169G>T (p.Ala57Ser) variant affects a highly conserved amino acid and is predicted by multiple in silico tools to have a deleterious effect on protein function. To date, reported variants in the literature are located in the BTB protein domain, while this variant overlaps multiple Small GTPase superfamily domains and Mitochondrial Rho-like domain (PMID: 29276004, Alamut Visual Plus version v1.2.1). Analysis of the parental samples was negative for the variant, indicating this variant likely occurred as a de novo event. Based on the available evidence, the c.169G>T (p.Ala57Ser) variant is classified as Likely Pathogenic.

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