ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.2644G>A (p.Glu882Lys)

gnomAD frequency: 0.00001  dbSNP: rs778979756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195770 SCV001366190 uncertain significance Autosomal dominant nonsyndromic hearing loss 12 2020-02-19 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Invitae RCV002561040 SCV003485616 uncertain significance not provided 2022-02-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 930247). This variant has not been reported in the literature in individuals affected with TECTA-related conditions. This variant is present in population databases (rs778979756, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 882 of the TECTA protein (p.Glu882Lys).

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