ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.4444G>A (p.Val1482Met)

gnomAD frequency: 0.00179  dbSNP: rs61740336
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762397 SCV000892710 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing TNXB: BS2
GeneDx RCV000762397 SCV001831099 benign not provided 2018-12-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279523 SCV002566261 likely benign Ehlers-Danlos syndrome 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332543 SCV002631322 likely benign Cardiovascular phenotype 2020-12-10 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003938149 SCV004754795 benign TNXB-related disorder 2021-05-25 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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