ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3417G>C (p.Leu1139Phe)

gnomAD frequency: 0.00014  dbSNP: rs202080366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548552 SCV000626023 uncertain significance not provided 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1139 of the ELP1 protein (p.Leu1139Phe). This variant is present in population databases (rs202080366, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 455965). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000548552 SCV002541008 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461285 SCV002756015 uncertain significance Inborn genetic diseases 2020-10-19 criteria provided, single submitter clinical testing The p.L1139F variant (also known as c.3417G>C), located in coding exon 31 of the IKBKAP gene, results from a G to C substitution at nucleotide position 3417. The leucine at codon 1139 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002506288 SCV002815723 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-04 criteria provided, single submitter clinical testing

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