ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12525dup (p.Asn4176fs)

dbSNP: rs2151879527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001797858 SCV002039186 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2021-12-23 criteria provided, single submitter clinical testing The variant has not yet been reported in databases or in the literature. The duplication leads to a frameshift and, as a consequence, to an elongated protein; a possible pathomechanism remains yet unclear. The variant is therefore regarded as a variant of unknown significance.

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