ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.602G>C (p.Arg201Pro)

dbSNP: rs367552387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002528840 SCV000751663 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 201 of the ELP1 protein (p.Arg201Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is present in population databases (rs367552387, ExAC 0.006%). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000630698 SCV001160349 uncertain significance Familial dysautonomia 2019-03-13 criteria provided, single submitter clinical testing The p.Arg201Pro variant (rs367552387) has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.002 percent (identified on 4 out of 251,416 chromosomes) and has been reported to the ClinVar database (Variation ID: 526201). The arginine at position 201 is highly conserved and computational analyses of the effects of the p.Arg201Pro variant on protein structure and function is deleterious (SIFT: damaging, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Arg201Pro variant with certainty.
Natera, Inc. RCV000630698 SCV002082162 uncertain significance Familial dysautonomia 2021-02-10 no assertion criteria provided clinical testing

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