Submissions for variant NM_024577.3(SH3TC2):c.1326G>A (p.Pro442=) (rs138967360)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000517752	SCV000615237	uncertain significance	not specified	2017-04-10	criteria provided, single submitter	clinical testing
Invitae	RCV000820995	SCV000961734	uncertain significance	Charcot-Marie-Tooth disease type 4	2019-06-14	criteria provided, single submitter	clinical testing	This sequence change affects codon 442 of the SH3TC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SH3TC2 protein. This variant is present in population databases (rs138967360, ExAC 0.03%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. ClinVar contains an entry for this variant (Variation ID: 448364). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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