ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.11206G>A (p.Asp3736Asn)

gnomAD frequency: 0.00001  dbSNP: rs1373104511
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001980846 SCV002286616 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 3736 of the USH2A protein (p.Asp3736Asn). This variant is not present in population databases (gnomAD no frequency). 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: 1492289). 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) performed at Invitae indicates that this missense variant is expected to disrupt 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.
Fulgent Genetics, Fulgent Genetics RCV002492280 SCV002778539 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-04-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453938 SCV004182127 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453937 SCV004182128 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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