ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2068A>G (p.Lys690Glu)

dbSNP: rs761858315
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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 RCV001340483 SCV001534294 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 690 of the ELP1 protein (p.Lys690Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. 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. ClinVar contains an entry for this variant (Variation ID: 526184). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Natera, Inc. RCV000630681 SCV001457912 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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