ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.410C>A (p.Thr137Lys)

gnomAD frequency: 0.00004  dbSNP: rs201460139
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571513 SCV001796003 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV001571513 SCV002541009 uncertain significance not provided 2021-11-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039372 SCV002754637 uncertain significance not specified 2022-10-26 criteria provided, single submitter clinical testing The c.410C>A (p.T137K) alteration is located in exon 5 (coding exon 4) of the IKBKAP gene. This alteration results from a C to A substitution at nucleotide position 410, causing the threonine (T) at amino acid position 137 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002488393 SCV002785092 uncertain significance Medulloblastoma; Familial dysautonomia 2021-07-23 criteria provided, single submitter clinical testing
Invitae RCV001571513 SCV003460287 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 137 of the ELP1 protein (p.Thr137Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is present in population databases (rs201460139, ExAC 0.02%). 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 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.
Natera, Inc. RCV001832783 SCV002082176 uncertain significance Familial dysautonomia 2020-05-06 no assertion criteria provided clinical testing

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