ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8935G>A (p.Val2979Ile)

gnomAD frequency: 0.00004  dbSNP: rs769479181
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001325488 SCV001516481 uncertain significance not provided 2022-09-07 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 2979 of the USH2A protein (p.Val2979Ile). This variant is present in population databases (rs769479181, gnomAD 0.0009%). 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: 1025201). 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.
GeneDx RCV001325488 SCV001783636 uncertain significance not provided 2021-06-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Genome-Nilou Lab RCV003449937 SCV004182754 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449936 SCV004182755 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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