ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.1001-3C>T (rs1553603640)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000587350 SCV000699485 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing Variant summary: The TMEM43 c.1001-3C>T variant involves the alteration of a conserved intronic nucleotide. Mutation Taster predicts damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 121314 control chromosomes from ExAC. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories, nor evaluated for functional impact by in vivo/vitro studies. In one internal sample carrying this variant, a pathogenic variant SCN5A D356N was also found. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.

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