ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr)

gnomAD frequency: 0.00005  dbSNP: rs754831171
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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 RCV001990750 SCV002255460 uncertain significance not provided 2021-12-13 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1063 of the ELP1 protein (p.Ile1063Thr). This variant is present in population databases (rs754831171, gnomAD 0.01%). 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.
Fulgent Genetics, Fulgent Genetics RCV002492167 SCV002776726 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044616 SCV005021176 uncertain significance not specified 2023-09-15 criteria provided, single submitter clinical testing The p.I1063T variant (also known as c.3188T>C), located in coding exon 28 of the IKBKAP gene, results from a T to C substitution at nucleotide position 3188. The isoleucine at codon 1063 is replaced by threonine, an amino acid with 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.

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