ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200174 SCV001371065 uncertain significance not provided 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV001216324 SCV001388115 uncertain significance Charcot-Marie-Tooth disease type 4 2019-04-12 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1246 of the SH3TC2 protein (p.Asp1246Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs753142542, ExAC 0.008%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.

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