ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)

gnomAD frequency: 0.00003  dbSNP: rs149027999
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243040 SCV001416172 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3195 of the USH2A protein (p.Gly3195Arg). This variant is present in population databases (rs149027999, gnomAD 0.003%). 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: 967999). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV003353257 SCV004072109 uncertain significance Inborn genetic diseases 2023-06-27 criteria provided, single submitter clinical testing The c.9583G>A (p.G3195R) alteration is located in exon 49 (coding exon 48) of the USH2A gene. This alteration results from a G to A substitution at nucleotide position 9583, causing the glycine (G) at amino acid position 3195 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003449761 SCV004182676 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001836217 SCV004182677 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836217 SCV002088394 uncertain significance Usher syndrome type 2A 2020-03-29 no assertion criteria provided clinical testing

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