ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3066T>A (p.Phe1022Leu)

gnomAD frequency: 0.00001  dbSNP: rs372822046
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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 RCV001218044 SCV001389911 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1022 of the ELP1 protein (p.Phe1022Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs372822046, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with ELP1-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 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 RCV004034056 SCV002755534 uncertain significance not specified 2019-12-03 criteria provided, single submitter clinical testing The p.F1022L variant (also known as c.3066T>A), located in coding exon 27 of the IKBKAP gene, results from a T to A substitution at nucleotide position 3066. The phenylalanine at codon 1022 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001836162 SCV002082044 uncertain significance Familial dysautonomia 2020-07-17 no assertion criteria provided clinical testing

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