ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe)

gnomAD frequency: 0.00001  dbSNP: rs902459185
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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 RCV001894929 SCV002136683 uncertain significance not provided 2022-02-08 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 68 of the RP1L1 protein (p.Leu68Phe). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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 RP1L1 protein function. This variant has not been reported in the literature in individuals affected with RP1L1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002478178 SCV002776442 uncertain significance Occult macular dystrophy; Retinitis pigmentosa 88 2021-11-02 criteria provided, single submitter clinical testing

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