ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)

gnomAD frequency: 0.00001  dbSNP: rs527236079
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987482 SCV001136781 likely pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858668 SCV002220849 pathogenic not provided 2023-07-16 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 802096). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Arg55 amino acid residue in LRAT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25324289, 29844330). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individuals with inherited retinal dystrophy (PMID: 30190494; Invitae). This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 55 of the LRAT protein (p.Arg55Gly).

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