ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3676-8G>A (rs772823083)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000824889 SCV000965803 uncertain significance Charcot-Marie-Tooth disease, type 4C criteria provided, single submitter clinical testing
GeneDx RCV000489941 SCV000576960 pathogenic not provided 2017-04-13 criteria provided, single submitter clinical testing The c.3676-8 G>A splice site variant in the SH3TC2 gene has been previously reported along with nonsense or frameshift variants in unrelated individuals with CMT4C (Lassuthova et al., 2011; Yger et al., 2012). This pathogenic variant is predicted to create a cryptic acceptor site upstream of the natural acceptor site for intron 16 and functional studies in transfected cells demonstrate aberrant splicing (Lassuthova et al., 2012). Homozygosity for the c.3676-8 G>A pathogenic variant is consistent with a diagnosis of CMT4C in this individual. However, this result could also be seen if the patient had one allele with the c.3676-8 G>A pathogenic variant and one allele that was partially missing or refractory to amplification.
Inherited Neuropathy Consortium RCV000789578 SCV000928934 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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