ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2806A>G (p.Ile936Val)

gnomAD frequency: 0.00001  dbSNP: rs1239561807
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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 RCV002528301 SCV000626016 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 936 of the ELP1 protein (p.Ile936Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). 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 disruptive. 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 RCV002483348 SCV002789060 uncertain significance Medulloblastoma; Familial dysautonomia 2022-05-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023736 SCV005021175 uncertain significance not specified 2023-10-26 criteria provided, single submitter clinical testing The p.I936V variant (also known as c.2806A>G), located in coding exon 25 of the IKBKAP gene, results from an A to G substitution at nucleotide position 2806. The isoleucine at codon 936 is replaced by valine, 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. RCV000536658 SCV001457895 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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