ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.2297A>G (p.Asn766Ser)

gnomAD frequency: 0.00006  dbSNP: rs183607403
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230192 SCV001402665 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-05-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 766 of the RPGRIP1 protein (p.Asn766Ser). This variant is present in population databases (rs183607403, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 957244). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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