ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.3809T>G (p.Val1270Gly)

gnomAD frequency: 0.00003  dbSNP: rs368856942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050905 SCV001215034 likely pathogenic not provided 2023-08-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1270 of the EYS protein (p.Val1270Gly). This variant is present in population databases (rs368856942, gnomAD 0.05%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 22302105, 31814702, 32218477, 33691693). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 847373). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Illumina Laboratory Services, Illumina RCV001164781 SCV001326931 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.
Dept Of Ophthalmology, Nagoya University RCV003890190 SCV004707525 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001164781 SCV001459433 uncertain significance Retinitis pigmentosa 2020-09-16 no assertion criteria provided clinical testing

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