ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2822G>T (p.Gly941Val)

gnomAD frequency: 0.00019  dbSNP: rs749101387
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270021 SCV000464451 uncertain significance Retinitis pigmentosa 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Blueprint Genetics RCV001075064 SCV001240675 uncertain significance Retinal dystrophy 2018-06-09 criteria provided, single submitter clinical testing
Invitae RCV001244891 SCV001418142 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 941 of the EYS protein (p.Gly941Val). This variant is present in population databases (rs749101387, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 357723). 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 RCV003168549 SCV003875944 uncertain significance Inborn genetic diseases 2023-02-16 criteria provided, single submitter clinical testing The c.2822G>T (p.G941V) alteration is located in exon 18 (coding exon 15) of the EYS gene. This alteration results from a G to T substitution at nucleotide position 2822, causing the glycine (G) at amino acid position 941 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828351 SCV002084443 uncertain significance Retinitis pigmentosa 25 2020-08-18 no assertion criteria provided clinical testing

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