ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met)

dbSNP: rs368240096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071220 SCV001236512 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with methionine at codon 3216 of the USH2A protein (p.Leu3216Met). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and methionine. This variant is present in population databases (rs368240096, ExAC 0.01%). 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. RCV001828527 SCV002088392 uncertain significance Usher syndrome type 2A 2020-11-20 no assertion criteria provided clinical testing

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