ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3615A>T (p.Gly1205=)

dbSNP: rs2139350334
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001933803 SCV002202577 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2021-07-08 criteria provided, single submitter clinical testing This sequence change affects codon 1205 of the RPGRIP1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the RPGRIP1 protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has been observed in individual(s) with Leber congenital amaurosis (Invitae). This variant is not present in population databases (ExAC no frequency).

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