ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2515A>G (p.Ile839Val)

gnomAD frequency: 0.00001  dbSNP: rs779097269
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001880226 SCV002158466 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 839 of the ELP1 protein (p.Ile839Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs779097269, ExAC 0.001%). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. RCV001277383 SCV001464331 uncertain significance Familial dysautonomia 2020-08-13 no assertion criteria provided clinical testing

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