ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu)

dbSNP: rs780358747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001306552 SCV001495929 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with glutamic acid at codon 2933 of the USH2A protein (p.Ala2933Glu). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and glutamic acid. This variant is present in population databases (rs780358747, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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.
Natera, Inc. RCV001835491 SCV002090803 uncertain significance Usher syndrome type 2A 2019-11-06 no assertion criteria provided clinical testing

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