ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) (rs80338930)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000441336 SCV000511095 pathogenic not provided 2016-06-28 criteria provided, single submitter clinical testing
Inherited Neuropathy Consortium RCV000789561 SCV000928917 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Invitae RCV000456313 SCV000546364 pathogenic Charcot-Marie-Tooth disease type 4 2017-08-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 881 of the SH3TC2 protein (p.Asn881Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from a pathogenic variant in two individuals affected with autosomal recessive Charcot Marie Tooth disease (PMID: 16924012, 21291453). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. Experimental studies have shown that this missense change alters the cellular localization of the SH3TC2 protein as well as its interactions with other proteins (PMID: 20028792, 20826437, 23553667). For these reasons, this variant has been classified as Pathogenic.

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