ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.2504T>C (p.Ile835Thr)

dbSNP: rs2135084344
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757016 SCV001995293 uncertain significance not provided 2019-11-22 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003247016 SCV003939130 uncertain significance Inborn genetic diseases 2023-04-27 criteria provided, single submitter clinical testing The c.2504T>C (p.I835T) alteration is located in exon 9 (coding exon 9) of the TECTA gene. This alteration results from a T to C substitution at nucleotide position 2504, causing the isoleucine (I) at amino acid position 835 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001757016 SCV005778060 uncertain significance not provided 2024-04-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 835 of the TECTA protein (p.Ile835Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TECTA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1309948). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TECTA protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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