ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1735T>A (p.Phe579Ile)

dbSNP: rs199555804
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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 RCV001044042 SCV001207816 uncertain significance not provided 2022-03-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 579 of the ELP1 protein (p.Phe579Ile). This variant is present in population databases (rs199555804, gnomAD 0.004%). 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: 841753). 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.
Ambry Genetics RCV004031341 SCV002755794 uncertain significance not specified 2021-10-06 criteria provided, single submitter clinical testing The p.F579I variant (also known as c.1735T>A), located in coding exon 14 of the IKBKAP gene, results from a T to A substitution at nucleotide position 1735. The phenylalanine at codon 579 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Natera, Inc. RCV001832418 SCV002082120 uncertain significance Familial dysautonomia 2020-02-24 no assertion criteria provided clinical testing

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