ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala)

gnomAD frequency: 0.00004  dbSNP: rs755416914
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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 RCV001203360 SCV001374522 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 4387 of the USH2A protein (p.Thr4387Ala). This variant is present in population databases (rs755416914, gnomAD 0.03%). 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: 934882). 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 alanine 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.
Natera, Inc. RCV001828633 SCV002088276 uncertain significance Usher syndrome type 2A 2020-03-12 no assertion criteria provided clinical testing

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