ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050669 SCV001214788 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 150 of the SH3TC2 protein (p.Leu150Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs542260900, ExAC 0.001%). 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: "Possibly Damaging"; 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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