ClinVar Miner

Submissions for variant NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) (rs1571165140)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000815733 SCV000956202 likely pathogenic Leber congenital amaurosis 2; Retinitis pigmentosa 20 2018-11-05 criteria provided, single submitter clinical testing This variant, c.991_993dupTGG, results in the insertion of 1 amino acid(s) to the RPE65 protein (p.Trp331dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with Leber congenital amaurosis in one family (PMID: 20683928). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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