ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2417A>G (p.Tyr806Cys)

gnomAD frequency: 0.00004  dbSNP: rs191464698
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504390 SCV002815596 uncertain significance Medulloblastoma; Familial dysautonomia 2022-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542868 SCV003285327 uncertain significance not provided 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 806 of the ELP1 protein (p.Tyr806Cys). This variant is present in population databases (rs191464698, gnomAD 0.1%). 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: 989534). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt ELP1 protein function with a negative predictive value of 80%. 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 RCV004035445 SCV003855293 uncertain significance not specified 2023-02-16 criteria provided, single submitter clinical testing The p.Y806C variant (also known as c.2417A>G), located in coding exon 22 of the IKBKAP gene, results from an A to G substitution at nucleotide position 2417. The tyrosine at codon 806 is replaced by cysteine, an amino acid with highly dissimilar 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. RCV001277388 SCV001464336 uncertain significance Familial dysautonomia 2020-08-21 no assertion criteria provided clinical testing

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