ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) (rs746837034)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240871 SCV001413849 uncertain significance not provided 2020-06-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 4784 of the USH2A protein (p.Glu4784Lys). 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 (rs746837034, ExAC 0.01%). This variant has been observed in an individual with clinical features of retinitis pigmentosa (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003252 SCV001161332 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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