ClinVar Miner

Submissions for variant NM_001009894.3(C12orf29):c.*926C>T (rs200178519)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000338001 SCV000381306 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407058 SCV000381307 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298062 SCV000381308 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369181 SCV000381309 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407054 SCV000381310 uncertain significance Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000544687 SCV000634665 uncertain significance Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-09-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 2426 of the CEP290 protein (p.Asp2426Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs200178519, ExAC 0.02%) but has not been reported in the literature in individuals with a CEP290-related disease. ClinVar contains an entry for this variant (Variation ID: 310586). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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