ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln)

gnomAD frequency: 0.00003  dbSNP: rs776426059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237491 SCV001410253 uncertain significance Charcot-Marie-Tooth disease type 4 2023-05-22 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. 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 SH3TC2 protein function. ClinVar contains an entry for this variant (Variation ID: 963462). This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions. This variant is present in population databases (rs776426059, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 954 of the SH3TC2 protein (p.Arg954Gln).
Ambry Genetics RCV002436930 SCV002749811 uncertain significance Inborn genetic diseases 2020-10-15 criteria provided, single submitter clinical testing The p.R954Q variant (also known as c.2861G>A), located in coding exon 11 of the SH3TC2 gene, results from a G to A substitution at nucleotide position 2861. The arginine at codon 954 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics Inc RCV002473238 SCV002771243 uncertain significance not provided 2021-09-30 criteria provided, single submitter clinical testing

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