ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4276_4277del (p.Gln1425_Asn1426insTer)

dbSNP: rs863224523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000196701 SCV000253951 pathogenic Familial aplasia of the vermis 2015-02-25 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotide from exon 33 of the CEP290 mRNA (c.4276_4277delAA), causing a frameshift at codon 1426. This creates a premature translational stop signal (p.Asn1426*) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in CEP290 are known to be pathogenic (PMID: 20690115). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001382833 SCV001581775 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2015-02-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in CEP290 are known to be pathogenic (PMID: 20690115). This sequence change deletes 2 nucleotide from exon 33 of the CEP290 mRNA (c.4276_4277delAA), causing a frameshift at codon 1426. This creates a premature translational stop signal (p.Asn1426*) and is expected to result in an absent or disrupted protein product.

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