ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2086C>T (p.Arg696Trp)

gnomAD frequency: 0.00002  dbSNP: rs771647322
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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 RCV002568565 SCV001416312 uncertain significance not provided 2022-01-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 696 of the ELP1 protein (p.Arg696Trp). This variant is present in population databases (rs771647322, gnomAD 0.005%). 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: 968116). 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"). This variant disrupts the p.Arg696 amino acid residue in ELP1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11179008, 11179021, 12116234). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. RCV001243174 SCV002082097 uncertain significance Familial dysautonomia 2020-01-14 no assertion criteria provided clinical testing

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