ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3325G>A (p.Val1109Ile)

gnomAD frequency: 0.00001  dbSNP: rs761896714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002536364 SCV000831697 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1109 of the ELP1 protein (p.Val1109Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs761896714, 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. RCV000702826 SCV002082032 uncertain significance Familial dysautonomia 2020-08-28 no assertion criteria provided clinical testing

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