ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile)

gnomAD frequency: 0.00001  dbSNP: rs397517996
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041775 SCV000065471 uncertain significance not specified 2011-09-25 criteria provided, single submitter clinical testing The Thr5013Ile variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, homology, PolyPhen2, SIFT, AlignGVGD) do not provide strong supp ort for or against pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001201627 SCV001372706 uncertain significance not provided 2023-11-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 5013 of the USH2A protein (p.Thr5013Ile). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 48452). 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 USH2A 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.
Genome-Nilou Lab RCV003450808 SCV004182229 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450807 SCV004182240 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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