ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.728A>C (p.Lys243Thr)

gnomAD frequency: 0.00001  dbSNP: rs766603726
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001365188 SCV001561447 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-11-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs766603726, gnomAD 0.006%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 243 of the RPGRIP1 protein (p.Lys243Thr). ClinVar contains an entry for this variant (Variation ID: 1056370). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RPGRIP1 protein function.

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