ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val)

gnomAD frequency: 0.00001  dbSNP: rs727505097
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Total submissions: 3
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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 RCV000156541 SCV000206260 likely benign not specified 2014-05-01 criteria provided, single submitter clinical testing Ala4366Val in exon 63 of USH2A: This variant is not expected to have clinical si gnificance due to a lack of conservation across species, including mammals. Of n ote, at least 4 mammals (squirrel, cat, star-nosed mole, and tenrec) have a vali ne (Val) at this position despite high nearby amino acid conservation.
Eurofins Ntd Llc (ga) RCV000724829 SCV000231911 uncertain significance not provided 2015-05-29 criteria provided, single submitter clinical testing
Invitae RCV000724829 SCV002199709 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 4366 of the USH2A protein (p.Ala4366Val). This variant is present in population databases (rs727505097, gnomAD 0.009%). 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: 179743). 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. 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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