ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2068A>C (p.Lys690Gln)

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 RCV001241885 SCV001414938 uncertain significance not provided 2022-03-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 690 of the ELP1 protein (p.Lys690Gln). This variant is present in population databases (rs761858315, gnomAD 0.0009%). 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: 967065). 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. RCV001836215 SCV002082098 uncertain significance Familial dysautonomia 2020-11-11 no assertion criteria provided clinical testing

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