ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met)

gnomAD frequency: 0.00019  dbSNP: rs367685759
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191134 SCV000245543 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2015-03-30 criteria provided, single submitter clinical testing This variant has been found once in our laboratory in trans with another missense variant [R3211G] in a 40-year-old female with a clinical diagnosis of EDS type III, pain, hypermobility, fevers, night sweats, depression, GI problems, and hyperextensibility in her mother (who was negative for this change). This variant has been seen in our laboratory with other rare variants (phase undetermined) in a 2-year-old male [Q3848K] with tall habitus, joint pain and laxity, hyperelasticity, but also in 3 others without related related symptoms.
GeneDx RCV001577104 SCV001804430 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252042 SCV002523354 uncertain significance See cases 2019-04-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277447 SCV002565204 benign Ehlers-Danlos syndrome 2021-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372161 SCV002690705 benign Cardiovascular phenotype 2020-03-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001577104 SCV004156232 benign not provided 2022-12-01 criteria provided, single submitter clinical testing TNXB: BP4, BS1, BS2

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