ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.38A>G (p.Glu13Gly)

gnomAD frequency: 0.00025  dbSNP: rs186642323
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000730 SCV001157776 uncertain significance Leber congenital amaurosis 5 2018-08-21 criteria provided, single submitter clinical testing The LCA5 c.38A>G; p.Glu13Gly variant (rs186642323), to our knowledge, is not reported in the medical literature or in gene-specific databases. This variant is found in the African population with an overall allele frequency of 0.1% (24/34414 alleles) in the Genome Aggregation Database. The glutamine at codon 13 is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Considering available information, the clinical significance of this variant cannot be determined with certainty. Pathogenic LCA5 variants are causative for autosomal recessive Leber Congenital Amaurosis (MIM: 604537).
Invitae RCV001239123 SCV001411974 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 13 of the LCA5 protein (p.Glu13Gly). This variant is present in population databases (rs186642323, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with LCA5-related conditions. ClinVar contains an entry for this variant (Variation ID: 811098). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002550741 SCV003714892 uncertain significance Inborn genetic diseases 2022-01-04 criteria provided, single submitter clinical testing The c.38A>G (p.E13G) alteration is located in exon 3 (coding exon 1) of the LCA5 gene. This alteration results from a A to G substitution at nucleotide position 38, causing the glutamic acid (E) at amino acid position 13 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001000730 SCV001455716 uncertain significance Leber congenital amaurosis 5 2020-06-08 no assertion criteria provided clinical testing

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