ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)

gnomAD frequency: 0.00001  dbSNP: rs397518035
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Total submissions: 7
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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 RCV000041920 SCV000065616 uncertain significance not specified 2011-08-22 criteria provided, single submitter clinical testing The Val2734Met variant in USH2A has not been reported in the literature nor prev iously identified by our laboratory. This residue is highly conserved across spe cies, however computational analyses (biochemical amino acid properties, PolyPhe n2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In summary, the clinical significance of this variant cannot be determined at t his time.
Counsyl RCV000670608 SCV000795480 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV002513607 SCV003519422 uncertain significance not provided 2022-09-21 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 2734 of the USH2A protein (p.Val2734Met). This variant is present in population databases (rs397518035, gnomAD 0.006%). 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: 48594). 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 RCV003450898 SCV004182834 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000477867 SCV004182835 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477867 SCV000536804 uncertain significance Usher syndrome type 2A 2015-11-24 no assertion criteria provided research
Natera, Inc. RCV000477867 SCV001458113 uncertain significance Usher syndrome type 2A 2020-09-16 no assertion criteria provided clinical testing

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