ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) (rs864622664)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205253 SCV000261686 pathogenic Charcot-Marie-Tooth disease type 4 2015-10-28 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 14 of the SH3TC2 mRNA (c.3303delG), causing a frameshift at codon 1101. This creates a premature translational stop signal (p.Arg1101Serfs*15) and is expected to result in an absent or disrupted protein product. Truncating variants in SH3TC2 are known to be pathogenic. This particular truncation has been reported in the literature in at least one patient with neuropathy (PMID: 25614874). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000484617 SCV000568789 pathogenic not provided 2017-03-22 criteria provided, single submitter clinical testing The c.3303delG pathogenic variant in the SH3TC2 gene has been reported previously in an individual with neuropathy; however no additional information was provided (DiVincenzo et al., 2014). The c.3303delG pathogenic variant in the SH3TC2 gene causes a frameshift starting with codon Arginine 1101, changes this amino acid to a Serine residue and creates a premature Stop codon at position 15 of the new reading frame, denoted p.R1101SfsX15. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay. Furthermore, the c.3303delG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, c.3303delG is interpreted to be a pathogenic variant.
Inherited Neuropathy Consortium RCV000789570 SCV000928926 pathogenic Charcot-Marie-Tooth disease no assertion criteria provided literature only

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