ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)

gnomAD frequency: 0.00009  dbSNP: rs587783023
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665419 SCV000789539 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2017-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000665419 SCV000896273 uncertain significance Usher syndrome type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001100751 SCV001257287 uncertain significance Usher syndrome type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001101006 SCV001257561 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514776 SCV003524086 uncertain significance not provided 2022-02-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 805 of the USH2A protein (p.Gly805Ala). This variant is present in population databases (rs587783023, gnomAD 0.1%). This missense change has been observed in individual(s) with USH2A-related conditions (PMID: 25445212, 27057829, 33691693). ClinVar contains an entry for this variant (Variation ID: 156393). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV003453102 SCV004182434 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001100751 SCV004182435 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888576 SCV004708038 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Molecular Diagnostics Laboratory, Seoul National University Hospital RCV000144475 SCV000189610 uncertain significance Leber congenital amaurosis 2014-09-18 no assertion criteria provided clinical testing

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