ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del)

dbSNP: rs2127289918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727357 SCV001961951 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002449403 SCV002680795 uncertain significance Cardiovascular phenotype 2024-01-29 criteria provided, single submitter clinical testing The c.1263_1448del186 variant (also known as p.T428_G489del) is located in coding exon 2 of the TNXB gene. This variant results from an in-frame deletion of 186 nucleotides at positions 1263 to 1448. This results in the deletion of 62 amino acids between codons 428 and 489. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GenomeConnect, ClinGen RCV001825016 SCV002074888 not provided Ehlers-Danlos syndrome due to tenascin-X deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 06-10-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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