ClinVar Miner

Submissions for variant NM_004744.5(LRAT):c.111C>G (p.Asn37Lys)

dbSNP: rs995895723
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001215926 SCV001387695 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 37 of the LRAT protein (p.Asn37Lys). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with LRAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 945311). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The lysine 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.
Ambry Genetics RCV002561877 SCV003686841 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.111C>G (p.N37K) alteration is located in exon 2 (coding exon 1) of the LRAT gene. This alteration results from a C to G substitution at nucleotide position 111, causing the asparagine (N) at amino acid position 37 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Dept Of Ophthalmology, Nagoya University RCV003887914 SCV004706565 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005394824 SCV006057307 uncertain significance Leber congenital amaurosis 14; Retinitis pigmentosa 2021-07-30 criteria provided, single submitter research

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