ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3031C>T (p.Arg1011Cys)

gnomAD frequency: 0.00001  dbSNP: rs763981711
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242713 SCV001415819 uncertain significance not provided 2022-08-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1011 of the ELP1 protein (p.Arg1011Cys). This variant is present in population databases (rs763981711, gnomAD 0.004%). 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: 967730). 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. 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.
Genome-Nilou Lab RCV001563851 SCV001786892 uncertain significance Familial dysautonomia 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480813 SCV002776513 uncertain significance Medulloblastoma; Familial dysautonomia 2021-11-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034727 SCV003614022 uncertain significance not specified 2022-04-07 criteria provided, single submitter clinical testing The c.3031C>T (p.R1011C) alteration is located in exon 28 (coding exon 27) of the IKBKAP gene. This alteration results from a C to T substitution at nucleotide position 3031, causing the arginine (R) at amino acid position 1011 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001563851 SCV002082050 uncertain significance Familial dysautonomia 2020-04-28 no assertion criteria provided clinical testing

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