ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.10804G>A (p.Val3602Met)

dbSNP: rs142627164
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562094 SCV001784809 likely benign not provided 2018-07-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001562094 SCV004156228 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TNXB: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV001562094 SCV005225587 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004752012 SCV005344411 uncertain significance TNXB-related disorder 2024-03-28 no assertion criteria provided clinical testing The TNXB c.10798G>A variant is predicted to result in the amino acid substitution p.Val3600Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 1.2% of alleles in individuals of African descent in gnomAD. This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. Although we suspect this variant is benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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