ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe)

gnomAD frequency: 0.00001  dbSNP: rs1220087441
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001038642 SCV001202121 uncertain significance Charcot-Marie-Tooth disease type 4 2019-10-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 965 of the SH3TC2 protein (p.Ser965Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant has not been reported in the literature in individuals with SH3TC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
GeneDx RCV004822288 SCV005443359 uncertain significance not provided 2024-07-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004963006 SCV005496262 uncertain significance Inborn genetic diseases 2024-07-02 criteria provided, single submitter clinical testing The c.2894C>T (p.S965F) alteration is located in exon 12 (coding exon 12) of the SH3TC2 gene. This alteration results from a C to T substitution at nucleotide position 2894, causing the serine (S) at amino acid position 965 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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