ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.1488del (p.Gly497fs)

dbSNP: rs1376454917
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001839172 SCV002099110 uncertain significance Developmental and epileptic encephalopathy, 64 2021-04-09 criteria provided, single submitter clinical testing The c.1488del, p.Gly497AlafsTer6, frameshift variant in the RHOBTB2 gene has not been reported in the literature. This variant is not reported in the gnomAD v3 database, indicating this is a rare allele. The variant is expected to result in a truncated protein or protein loss due to nonsense-mediated messenger decay (NMD). The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RHOBTB2 gene cause disease. Based on the available evidence, the variant c.1488del, p.Gly497AlafsTer6, in the RHOBTB2 gene is classified as a Variant of Uncertain Significance.

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