ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val)

gnomAD frequency: 0.00005  dbSNP: rs753102887
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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 RCV001091803 SCV001248026 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375013 SCV002688125 uncertain significance Cardiovascular phenotype 2022-10-26 criteria provided, single submitter clinical testing The c.9206C>T (p.A3069V) alteration is located in exon 27 (coding exon 26) of the TNXB gene. This alteration results from a C to T substitution at nucleotide position 9206, causing the alanine (A) at amino acid position 3069 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002480457 SCV002781982 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8 2021-07-15 criteria provided, single submitter clinical testing

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