ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)

gnomAD frequency: 0.00067  dbSNP: rs369227219
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177661 SCV000229563 uncertain significance not provided 2014-05-20 criteria provided, single submitter clinical testing
Invitae RCV001239880 SCV001412783 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1344 of the CEP290 protein (p.Val1344Ala). This variant is present in population databases (rs369227219, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 196794). 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.
Revvity Omics, Revvity RCV000177661 SCV003831590 uncertain significance not provided 2020-04-17 criteria provided, single submitter clinical testing
GeneDx RCV000177661 SCV003837178 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003977452 SCV004797778 likely benign CEP290-related condition 2022-02-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001826902 SCV002094240 uncertain significance Leber congenital amaurosis 2019-10-28 no assertion criteria provided clinical testing

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