ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1214G>A (p.Arg405Gln)

gnomAD frequency: 0.00001  dbSNP: rs369242781
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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 RCV002527667 SCV002930915 uncertain significance not provided 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 405 of the ELP1 protein (p.Arg405Gln). This variant is present in population databases (rs369242781, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 455952). 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 glutamine 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. RCV000542389 SCV001462244 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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