ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr)

gnomAD frequency: 0.00003  dbSNP: rs1478498254
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001270766 SCV001451518 uncertain significance Ehlers-Danlos syndrome due to tenascin-X deficiency 2019-01-30 criteria provided, single submitter clinical testing The TNXB c.7546G>A (p.Ala2516Thr) variant is a missense variant. A literature search was performed for the gene, cDNA, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000079 in the African population from the Genome Aggregation Database, though this is based on one allele in a region of good sequencing coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Ala2516Thr variant is classified as a variant of uncertain significance for Ehlers-Danlos syndrome due to tenascin-X deficiency.
Ambry Genetics RCV003294173 SCV003998934 uncertain significance Cardiovascular phenotype 2023-04-03 criteria provided, single submitter clinical testing The p.A2516T variant (also known as c.7546G>A), located in coding exon 21 of the TNXB gene, results from a G to A substitution at nucleotide position 7546. The alanine at codon 2516 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004769989 SCV005377805 uncertain significance not provided 2023-12-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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