ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.332A>G (p.Asn111Ser)

gnomAD frequency: 0.00001  dbSNP: rs766119429
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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 RCV001988800 SCV002285355 uncertain significance not provided 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 133 of the RHOBTB2 protein (p.Asn133Ser). This variant is present in population databases (rs766119429, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with RHOBTB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1491653). 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 with a negative predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Revvity Omics, Revvity RCV003138014 SCV003816146 uncertain significance Developmental and epileptic encephalopathy, 64 2020-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289358 SCV003961300 uncertain significance Inborn genetic diseases 2023-06-13 criteria provided, single submitter clinical testing The c.398A>G (p.N133S) alteration is located in exon 6 (coding exon 4) of the RHOBTB2 gene. This alteration results from a A to G substitution at nucleotide position 398, causing the asparagine (N) at amino acid position 133 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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