ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.9414T>G (p.Asp3138Glu)

gnomAD frequency: 0.00004  dbSNP: rs374161234
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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 RCV001238996 SCV001411840 uncertain significance not provided 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 3138 of the EYS protein (p.Asp3138Glu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 29641573). ClinVar contains an entry for this variant (Variation ID: 964717). 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 tolerated. 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.
GeneDx RCV001238996 SCV002504071 likely benign not provided 2015-03-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Dept Of Ophthalmology, Nagoya University RCV003887947 SCV004707372 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001828912 SCV002083446 uncertain significance Retinitis pigmentosa 25 2020-08-05 no assertion criteria provided clinical testing

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