ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2092G>A (p.Val698Ile)

dbSNP: rs1828721515
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069698 SCV001234886 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 698 of the ELP1 protein (p.Val698Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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 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 RCV002497476 SCV002806231 uncertain significance Medulloblastoma; Familial dysautonomia 2021-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030721 SCV005021110 uncertain significance not specified 2024-02-25 criteria provided, single submitter clinical testing The p.V698I variant (also known as c.2092G>A), located in coding exon 18 of the IKBKAP gene, results from a G to A substitution at nucleotide position 2092. The valine at codon 698 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. Based on the available evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828520 SCV002082094 uncertain significance Familial dysautonomia 2021-09-10 no assertion criteria provided clinical testing

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