ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala)

gnomAD frequency: 0.00019  dbSNP: rs200635063
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482552 SCV000573978 uncertain significance not provided 2017-03-15 criteria provided, single submitter clinical testing The G1711A variant in the RP1L1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1711A variant is observed in 53/8626 (0.6%) alleles from individuals of East Asian background in the ExAC dataset (Lek et al., 2016). The G1711A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret G1711A as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002496876 SCV002783691 uncertain significance Occult macular dystrophy; Retinitis pigmentosa 88 2021-07-02 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889908 SCV004705840 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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