ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3886A>G (p.Ile1296Val)

gnomAD frequency: 0.00001  dbSNP: rs762773957
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034877 SCV001198177 uncertain significance not provided 2021-12-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1296 of the ELP1 protein (p.Ile1296Val). This variant is present in population databases (rs762773957, gnomAD 0.02%). 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: 834236). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002462263 SCV002754658 uncertain significance Inborn genetic diseases 2020-08-20 criteria provided, single submitter clinical testing The p.I1296V variant (also known as c.3886A>G), located in coding exon 35 of the IKBKAP gene, results from an A to G substitution at nucleotide position 3886. The isoleucine at codon 1296 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly 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.
Natera, Inc. RCV001271560 SCV001452812 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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