ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8613del (p.Phe2871fs)

dbSNP: rs1777434181
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004227787 SCV003741851 pathogenic Cardiovascular phenotype 2021-08-02 criteria provided, single submitter clinical testing The c.8607delT (p.F2869Lfs*40) alteration, located in exon 25 (coding exon 24) of the TNXB gene, consists of a deletion of one nucleotide at position 8607, causing a translational frameshift with a predicted alternate stop codon after 40 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005047385 SCV005669494 likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2024-03-28 criteria provided, single submitter clinical testing

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