ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1651T>C (p.Phe551Leu) (rs1554121720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518707 SCV000615241 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173827 SCV001336943 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001229705 SCV001402159 uncertain significance Charcot-Marie-Tooth disease type 4 2019-10-10 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 551 of the SH3TC2 protein (p.Phe551Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SH3TC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 448367). 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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