ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.427A>G (p.Ile143Val)

gnomAD frequency: 0.00001  dbSNP: rs571422569
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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 RCV001370653 SCV001567178 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 143 of the ELP1 protein (p.Ile143Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). 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 valine 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. RCV001831296 SCV002082173 uncertain significance Familial dysautonomia 2020-08-19 no assertion criteria provided clinical testing

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