ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8098G>A (p.Val2700Ile)

gnomAD frequency: 0.00001  dbSNP: rs778655083
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Total submissions: 2
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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 RCV000604697 SCV000731484 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing p.Val2700Ile in exon 41 of USH2A: This variant is not expected to have clinical significance due to a lack of conservation across species, including mammals. O f note, >10 mammals have an isoleucine (Ile) at this position despite high nearb y amino acid conservation. It has been identified in 1/66682 European chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbS NP rs778655083).
Labcorp Genetics (formerly Invitae), Labcorp RCV002528774 SCV002942517 uncertain significance not provided 2022-02-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2700 of the USH2A protein (p.Val2700Ile). This variant is present in population databases (rs778655083, gnomAD 0.002%). 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: 517281). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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