ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)

gnomAD frequency: 0.00001  dbSNP: rs529355834
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156013 SCV000205725 uncertain significance not specified 2013-09-08 criteria provided, single submitter clinical testing The Glu1918Lys variant in USH2A has not been reported in individuals with hearin g loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide s trong support for or against an impact to the protein. In summary, additional da ta is needed to determine the clinical significance of this variant.
Counsyl RCV000666166 SCV000790413 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV001239118 SCV001411968 uncertain significance not provided 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1918 of the USH2A protein (p.Glu1918Lys). This variant is present in population databases (rs529355834, gnomAD 0.04%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 25356976). ClinVar contains an entry for this variant (Variation ID: 179226). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A 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.
Genome-Nilou Lab RCV003453185 SCV004181767 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001835697 SCV004181768 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835697 SCV002091562 uncertain significance Usher syndrome type 2A 2020-09-24 no assertion criteria provided clinical testing

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