ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.2810G>A (p.Arg937His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005205756 SCV005848484 uncertain significance not provided 2024-08-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Located in the ZA, zonadhesin domain (PMID: 21520338, 31554319, 9590290); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 21520338, 31554319, 9590290)
Ambry Genetics RCV005283642 SCV005953125 uncertain significance Inborn genetic diseases 2025-02-13 criteria provided, single submitter clinical testing The c.2810G>A (p.R937H) alteration is located in exon 9 (coding exon 9) of the TECTA gene. This alteration results from a G to A substitution at nucleotide position 2810, causing the arginine (R) at amino acid position 937 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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