ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3032G>A (p.Arg1011His)

gnomAD frequency: 0.00004  dbSNP: rs368999377
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000999198 SCV000751648 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1011 of the IKBKAP protein (p.Arg1011His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IKBKAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 526186). 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.
CeGaT Center for Human Genetics Tuebingen RCV000999198 SCV001155705 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477378 SCV002786790 uncertain significance Medulloblastoma; Familial dysautonomia 2021-10-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000630683 SCV001452830 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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