ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) (rs200635063)

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Total submissions: 1
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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.

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