ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.400_402del (p.Val134del)

dbSNP: rs1170746947
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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 RCV001207157 SCV001378497 uncertain significance Leber congenital amaurosis 2; Retinitis pigmentosa 20 2022-06-04 criteria provided, single submitter clinical testing This variant, c.400_402del, results in the deletion of 1 amino acid(s) of the RPE65 protein (p.Val134del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with autosomal recessive retinal dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 938014). 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.

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