ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met)

gnomAD frequency: 0.00003  dbSNP: rs762216794
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001837296 SCV002097824 uncertain significance Developmental and epileptic encephalopathy, 64 2021-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002542801 SCV003563494 likely benign Inborn genetic diseases 2023-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV001837296 SCV003816143 uncertain significance Developmental and epileptic encephalopathy, 64 2020-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003698880 SCV004470664 uncertain significance not provided 2023-03-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1341816). This variant has not been reported in the literature in individuals affected with RHOBTB2-related conditions. This variant is present in population databases (rs762216794, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 369 of the RHOBTB2 protein (p.Val369Met). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RHOBTB2 protein function. 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.

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