ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val)

gnomAD frequency: 0.00312  dbSNP: rs61733362
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086933 SCV000572700 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing The L516V variant in the PDE6A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L516V variant is observed in 113/10390 (1.1%) alleles from individuals of African background, in the ExAC dataset (Lek et al., 2016). The L516V 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 conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret L516V as a variant of uncertain significance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002090 SCV001159934 likely benign Retinitis pigmentosa 43 2018-07-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001157994 SCV001319605 uncertain significance Retinitis pigmentosa 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000086933 SCV001732735 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086933 SCV000119183 not provided not provided no assertion provided not provided

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