ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr)

gnomAD frequency: 0.00004  dbSNP: rs771921298
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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 RCV001174036 SCV001337156 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Ambry Genetics RCV002327423 SCV002630742 uncertain significance Inborn genetic diseases 2021-09-22 criteria provided, single submitter clinical testing The p.D390Y variant (also known as c.1168G>T), located in coding exon 10 of the SH3TC2 gene, results from a G to T substitution at nucleotide position 1168. The aspartic acid at codon 390 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV002473212 SCV002771246 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing

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