ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) (rs200006756)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552225 SCV000657909 uncertain significance Charcot-Marie-Tooth disease type 4 2018-07-12 criteria provided, single submitter clinical testing This sequence change replaces alanine with aspartic acid at codon 758 of the SH3TC2 protein (p.Ala758Asp). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and aspartic acid. This variant is present in population databases (rs200006756, ExAC 0.002%). This variant has been reported in an individual affected with Charcot-Marie-Tooth type 4C, however a second SH3TC2 variant was not identified in this individual (PMID: 18846676). Experimental studies have shown that this missense change does not affect SH3TC2 localization in vitro (PMID: 19744956). In summary, this variant is a rare missense change that is not predicted to affect protein function. It has been reported in both the population and an affected individual, but the available evidence is currently insufficient to conclusively determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium RCV000789571 SCV000928927 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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