ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val)

gnomAD frequency: 0.00002  dbSNP: rs564214956
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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 RCV001065028 SCV001229966 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1431 of the CEP290 protein (p.Ala1431Val). 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 variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 859019). 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.
PreventionGenetics, part of Exact Sciences RCV004528369 SCV004108755 uncertain significance CEP290-related disorder 2023-04-01 criteria provided, single submitter clinical testing The CEP290 c.4292C>T variant is predicted to result in the amino acid substitution p.Ala1431Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0091% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-88480178-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Dept Of Ophthalmology, Nagoya University RCV003890215 SCV004707665 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001273067 SCV001455654 uncertain significance Leber congenital amaurosis 2020-04-17 no assertion criteria provided clinical testing

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