ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.3432_3434dup (p.Asn1144_Glu1145insAsp)

dbSNP: rs2137341409
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001892847 SCV002152460 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2020-11-14 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. This variant has been observed in individual(s) with retinitis pigmentosa (Invitae). This variant, c.3432_3434dup, results in the insertion of 1 amino acid(s) to the CEP290 protein (p.Asn1144_Glu1145insAsp), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency).

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