ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)

gnomAD frequency: 0.00032  dbSNP: rs149873249
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520448 SCV000619440 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing The S265F variant in the SH3TC2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. While not present in the homozygous state, this variant is observed in 12/10406 (0.11%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). The S265F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S265F as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000654163 SCV000776053 likely benign Charcot-Marie-Tooth disease type 4 2024-09-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000520448 SCV001145615 uncertain significance not provided 2018-09-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332529 SCV001524885 uncertain significance Charcot-Marie-Tooth disease type 4C 2019-02-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002420317 SCV002681123 uncertain significance Inborn genetic diseases 2020-03-31 criteria provided, single submitter clinical testing The p.S265F variant (also known as c.794C>T), located in coding exon 7 of the SH3TC2 gene, results from a C to T substitution at nucleotide position 794. The serine at codon 265 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is well 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.

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