ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.3461C>T (p.Ser1154Leu)

dbSNP: rs188312873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001862736 SCV002172764 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1154 of the RPGRIP1 protein (p.Ser1154Leu). This variant is present in population databases (rs188312873, gnomAD 0.006%). 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: 813615). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252813 SCV001163956 uncertain significance Microcephaly no assertion criteria provided research

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