ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)

gnomAD frequency: 0.00001  dbSNP: rs748413646
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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 RCV001173818 SCV001336932 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001873620 SCV002162397 likely benign Charcot-Marie-Tooth disease type 4 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451353 SCV002612025 uncertain significance Inborn genetic diseases 2022-02-16 criteria provided, single submitter clinical testing The p.R1099H variant (also known as c.3296G>A), located in coding exon 14 of the SH3TC2 gene, results from a G to A substitution at nucleotide position 3296. The arginine at codon 1099 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, histidine is the reference amino acid in other 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.

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