ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3281G>A (p.Arg1094Lys)

gnomAD frequency: 0.00003  dbSNP: rs200941360
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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 RCV001239314 SCV001412183 uncertain significance not provided 2022-04-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1094 of the ELP1 protein (p.Arg1094Lys). This variant is present in population databases (rs200941360, gnomAD 0.009%). 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: 964976). 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 RCV002491784 SCV002777770 uncertain significance Medulloblastoma; Familial dysautonomia 2022-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034609 SCV003855291 uncertain significance not specified 2022-12-25 criteria provided, single submitter clinical testing The p.R1094K variant (also known as c.3281G>A), located in coding exon 29 of the IKBKAP gene, results from a G to A substitution at nucleotide position 3281. The arginine at codon 1094 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277371 SCV001464319 uncertain significance Familial dysautonomia 2020-08-21 no assertion criteria provided clinical testing

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