ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile)

dbSNP: rs1664494411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340449 SCV001534258 uncertain significance not provided 2022-01-15 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 2896 of the USH2A protein (p.Thr2896Ile). This missense change has been observed in individual(s) with clinical features of Usher syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 1037318). 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 disruptive.
Natera, Inc. RCV001830424 SCV002090809 uncertain significance Usher syndrome type 2A 2021-08-13 no assertion criteria provided clinical testing

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