ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1181T>C (p.Ile394Thr)

dbSNP: rs571143526
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004035476 SCV002755475 uncertain significance not specified 2019-12-06 criteria provided, single submitter clinical testing The p.I394T variant (also known as c.1181T>C), located in coding exon 10 of the IKBKAP gene, results from a T to C substitution at nucleotide position 1181. The isoleucine at codon 394 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Fulgent Genetics, Fulgent Genetics RCV002486042 SCV002787627 uncertain significance Medulloblastoma; Familial dysautonomia 2021-10-20 criteria provided, single submitter clinical testing
Invitae RCV002541692 SCV003292316 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 394 of the ELP1 protein (p.Ile394Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs571143526, ExAC 0.2%). 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: 990660). 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: "Possibly 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.
Natera, Inc. RCV001278725 SCV001465757 uncertain significance Familial dysautonomia 2020-08-03 no assertion criteria provided clinical testing

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