ClinVar Miner

Submissions for variant NM_001122769.3(LCA5):c.1654G>A (p.Ala552Thr)

gnomAD frequency: 0.00001  dbSNP: rs547237643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001320732 SCV001511529 uncertain significance not provided 2022-07-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 552 of the LCA5 protein (p.Ala552Thr). This variant is present in population databases (rs547237643, gnomAD 0.003%). 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: 1021043). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001835607 SCV006057228 uncertain significance Leber congenital amaurosis 5 2022-07-04 criteria provided, single submitter research
Natera, Inc. RCV001835607 SCV002076757 uncertain significance Leber congenital amaurosis 5 2020-05-04 no assertion criteria provided clinical testing

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