ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6346G>A (p.Glu2116Lys)

gnomAD frequency: 0.00004  dbSNP: rs781592754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037401 SCV001200812 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2116 of the MYO7A protein (p.Glu2116Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs781592754, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with MYO7A-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. RCV001274809 SCV001459300 uncertain significance Usher syndrome type 1B 2020-01-24 no assertion criteria provided clinical testing

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