ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly)

gnomAD frequency: 0.00002  dbSNP: rs749055881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734395 SCV000862534 uncertain significance not provided 2018-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000734395 SCV001816303 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002507308 SCV002814454 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-08-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303224 SCV003998927 uncertain significance Cardiovascular phenotype 2024-10-01 criteria provided, single submitter clinical testing The c.8186A>G (p.E2729G) alteration is located in exon 24 (coding exon 23) of the TNXB gene. This alteration results from a A to G substitution at nucleotide position 8186, causing the glutamic acid (E) at amino acid position 2729 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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