ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.299G>A (p.Gly100Asp)

gnomAD frequency: 0.00001  dbSNP: rs1396648864
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001044592 SCV001208397 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 100 of the LRAT protein (p.Gly100Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with LRAT-related conditions. 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 disruptive. 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.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001257115 SCV001433637 likely pathogenic Leber congenital amaurosis 14 no assertion criteria provided research

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