ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser)

gnomAD frequency: 0.00001  dbSNP: rs1416387782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174044 SCV001337164 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV002557496 SCV003340355 uncertain significance Charcot-Marie-Tooth disease type 4 2022-04-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 773 of the SH3TC2 protein (p.Pro773Ser). This variant is not present in population databases (gnomAD no frequency). 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: 917281). This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions.

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