ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1913C>T (p.Ala638Val)

gnomAD frequency: 0.00048  dbSNP: rs144370288
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002291742 SCV002584541 uncertain significance Medulloblastoma 2022-08-10 criteria provided, single submitter clinical testing The ELP1 c.1913C>T (p.Ala638Val) missense change has a maximum subpopulation frequency of 0.14% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with a personal or family history of medulloblastoma. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Ambry Genetics RCV002462896 SCV002755654 uncertain significance Inborn genetic diseases 2021-03-31 criteria provided, single submitter clinical testing The p.A638V variant (also known as c.1913C>T), located in coding exon 17 of the IKBKAP gene, results from a C to T substitution at nucleotide position 1913. The alanine at codon 638 is replaced by valine, an amino acid with similar properties. This amino acid position is highly 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.
Fulgent Genetics, Fulgent Genetics RCV002493485 SCV002788280 uncertain significance Medulloblastoma; Familial dysautonomia 2021-12-06 criteria provided, single submitter clinical testing
Invitae RCV002541691 SCV003450851 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 638 of the ELP1 protein (p.Ala638Val). This variant is present in population databases (rs144370288, 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: 990650). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ELP1 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.
Natera, Inc. RCV001278712 SCV001465744 uncertain significance Familial dysautonomia 2020-07-30 no assertion criteria provided clinical testing

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