ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.3002C>T (p.Pro1001Leu) (rs768607753)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000985244 SCV001132776 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2019-12-13 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 7 of the TNXB gene that results in the aminoacid substitution of Leucine for Proline at codon 1001 was detected. The observed variant c.3002C>T (p.Pro1001Leu) has not been reported in the 1000 genomes and has a minor allele frequency of 0.002% in the ExAC database. The in silico prediction of the variant is damaging by SIFT. The reference codon is conserved across species.

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