ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2807T>C (p.Ile936Thr)

gnomAD frequency: 0.00002  dbSNP: rs199617267
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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 RCV001246011 SCV001419338 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 936 of the ELP1 protein (p.Ile936Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 disruptive. 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 RCV004034846 SCV002755541 uncertain significance not specified 2021-06-11 criteria provided, single submitter clinical testing The p.I936T variant (also known as c.2807T>C), located in coding exon 25 of the IKBKAP gene, results from a T to C substitution at nucleotide position 2807. The isoleucine at codon 936 is replaced by threonine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835255 SCV002082064 uncertain significance Familial dysautonomia 2020-08-04 no assertion criteria provided clinical testing

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