ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu)

gnomAD frequency: 0.00001  dbSNP: rs1303051798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173164 SCV001336244 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873611 SCV002268052 uncertain significance Charcot-Marie-Tooth disease type 4 2024-12-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 714 of the SH3TC2 protein (p.Val714Leu). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 916954). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt SH3TC2 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002429788 SCV002730273 uncertain significance Inborn genetic diseases 2024-02-28 criteria provided, single submitter clinical testing The c.2140G>C (p.V714L) alteration is located in exon 11 (coding exon 11) of the SH3TC2 gene. This alteration results from a G to C substitution at nucleotide position 2140, causing the valine (V) at amino acid position 714 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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