ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.817C>A (p.Leu273Ile)

gnomAD frequency: 0.00001  dbSNP: rs1370759222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000824305 SCV000965198 uncertain significance not provided 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 273 of the ELP1 protein (p.Leu273Ile). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 665919). 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: "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.
Fulgent Genetics, Fulgent Genetics RCV002487860 SCV002793479 uncertain significance Medulloblastoma; Familial dysautonomia 2021-11-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825674 SCV002082154 uncertain significance Familial dysautonomia 2020-08-01 no assertion criteria provided clinical testing

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