ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2032A>G (p.Ser678Gly)

gnomAD frequency: 0.00001  dbSNP: rs756120509
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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 RCV002533675 SCV000831860 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 678 of the IKBKAP protein (p.Ser678Gly). This variant is present in population databases (rs756120509, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with IKBKAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 579643). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV004026612 SCV002754787 uncertain significance not specified 2019-11-04 criteria provided, single submitter clinical testing The p.S678G variant (also known as c.2032A>G), located in coding exon 18 of the IKBKAP gene, results from an A to G substitution at nucleotide position 2032. The serine at codon 678 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and glycine is the reference amino acid in other 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.
CeGaT Center for Human Genetics Tuebingen RCV002533675 SCV005074827 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing ELP1: PM2, BP4
Natera, Inc. RCV000702982 SCV001457913 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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