ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5410A>G (p.Ile1804Val)

gnomAD frequency: 0.00004  dbSNP: rs201804063
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000391754 SCV000339374 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487231 SCV002783174 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2022-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000391754 SCV003460534 uncertain significance not provided 2024-04-11 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1804 of the USH2A protein (p.Ile1804Val). This variant is present in population databases (rs201804063, gnomAD 0.008%). 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: 286089). 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 not expected to disrupt USH2A protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002519209 SCV003736783 uncertain significance Inborn genetic diseases 2021-06-18 criteria provided, single submitter clinical testing The c.5410A>G (p.I1804V) alteration is located in exon 27 (coding exon 26) of the USH2A gene. This alteration results from a A to G substitution at nucleotide position 5410, causing the isoleucine (I) at amino acid position 1804 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003454797 SCV004181809 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454796 SCV004181810 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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