ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala)

gnomAD frequency: 0.00001  dbSNP: rs145099178
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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 RCV001338341 SCV001532002 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 4214 of the USH2A protein (p.Thr4214Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs145099178, ExAC 0.009%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. RCV001836324 SCV002088293 uncertain significance Usher syndrome type 2A 2020-10-22 no assertion criteria provided clinical testing

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