ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1802C>G (p.Ser601Trp)

dbSNP: rs3748360
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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 RCV001202147 SCV001373251 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tryptophan, which is neutral and slightly polar, at codon 601 of the RPGRIP1 protein (p.Ser601Trp). This variant is present in population databases (rs3748360, gnomAD 0.03%). This missense change has been observed in individual(s) with Leber congenital amaurosis (PMID: 18682808). ClinVar contains an entry for this variant (Variation ID: 933850). 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 expected to disrupt RPGRIP1 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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