ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2801T>G (p.Phe934Cys)

gnomAD frequency: 0.00003  dbSNP: rs776891269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342880 SCV001536828 uncertain significance not provided 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with cysteine at codon 934 of the IKBKAP protein (p.Phe934Cys). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and cysteine. This variant is present in population databases (rs776891269, ExAC 0.01%). This variant has not been reported in the literature in individuals with IKBKAP-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV002499270 SCV002799574 uncertain significance Medulloblastoma; Familial dysautonomia 2022-02-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000705075 SCV002082065 uncertain significance Familial dysautonomia 2021-10-20 no assertion criteria provided clinical testing

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