ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3680A>G (p.Gln1227Arg)

gnomAD frequency: 0.00001  dbSNP: rs1272852371
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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 RCV001242977 SCV001416105 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1227 of the ELP1 protein (p.Gln1227Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. 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.
Ambry Genetics RCV004034736 SCV002754709 uncertain significance not specified 2020-02-24 criteria provided, single submitter clinical testing The p.Q1227R variant (also known as c.3680A>G), located in coding exon 33 of the IKBKAP gene, results from an A to G substitution at nucleotide position 3680. The glutamine at codon 1227 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well 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. RCV001835149 SCV002082009 uncertain significance Familial dysautonomia 2020-05-06 no assertion criteria provided clinical testing

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