ClinVar Miner

Submissions for variant NM_020366.4(RPGRIP1):c.967C>T (p.Leu323Phe)

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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 RCV002657977 SCV002977616 uncertain significance Cone-rod dystrophy 13; Leber congenital amaurosis 6 2022-05-05 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The phenylalanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 323 of the RPGRIP1 protein (p.Leu323Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RPGRIP1-related conditions. 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.
Ambry Genetics RCV003167550 SCV003887051 uncertain significance Inborn genetic diseases 2023-01-26 criteria provided, single submitter clinical testing The c.967C>T (p.L323F) alteration is located in exon 8 (coding exon 8) of the RPGRIP1 gene. This alteration results from a C to T substitution at nucleotide position 967, causing the leucine (L) at amino acid position 323 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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