ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2501A>G (p.Lys834Arg)

gnomAD frequency: 0.00001  dbSNP: rs764026138
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057573 SCV001222072 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 834 of the ELP1 protein (p.Lys834Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs764026138, 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001274117 SCV001457903 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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