ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.536_538TCT[1] (p.Phe180del) (rs763476083)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543637 SCV000657931 uncertain significance Charcot-Marie-Tooth disease type 4 2017-05-15 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides from exon 6 of the SH3TC2 mRNA (c.539_541delTCT). This leads to the deletion of 1 amino acid residue(s) in the SH3TC2 protein (p.Phe180del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs763476083, ExAC 0.02%) but has not been reported in the literature in individuals with a SH3TC2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. In summary, this variant is a rare in-frame deletion with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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