ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1973A>G (p.His658Arg)

gnomAD frequency: 0.00004  dbSNP: rs372151936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034682 SCV000751662 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 658 of the IKBKAP protein (p.His658Arg). This variant is present in population databases (rs372151936, gnomAD 0.0009%). 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: 526200). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Counsyl RCV000630697 SCV000788969 uncertain significance Familial dysautonomia 2016-12-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001034682 SCV001714304 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV000630697 SCV002082102 uncertain significance Familial dysautonomia 2020-02-12 no assertion criteria provided clinical testing

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