ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) (rs148634904)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000726668 SCV000892442 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726668 SCV000702033 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing
GeneDx RCV000235753 SCV000293133 likely benign not specified 2018-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000289039 SCV000454579 uncertain significance Mononeuropathy of the Median Nerve 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205496 SCV000454580 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205496 SCV000259225 uncertain significance Charcot-Marie-Tooth disease type 4 2018-01-05 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 230 of the SH3TC2 protein (p.Val230Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs148634904, ExAC 0.1%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. ClinVar contains an entry for this variant (Variation ID: 219388). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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