ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.1802C>T (p.Ser601Leu)

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 RCV001326077 SCV001517091 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-11-01 criteria provided, single submitter clinical testing 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 expected to disrupt RPGRIP1 protein function. ClinVar contains an entry for this variant (Variation ID: 1025725). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. This variant is present in population databases (rs3748360, gnomAD 0.1%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 601 of the RPGRIP1 protein (p.Ser601Leu).

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