ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) (rs147633804)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457307 SCV000546361 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-17 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 173 of the SH3TC2 protein (p.Leu173Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs147633804, ExAC 0.01%) but has not been reported in the literature in individuals with a SH3TC2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. It is not expected to cause disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000765821 SCV000897214 uncertain significance Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992973 SCV001145614 uncertain significance not provided 2019-04-25 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174034 SCV001337154 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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