ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3604C>T (p.Arg1202Trp)

gnomAD frequency: 0.00002  dbSNP: rs201168521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045574 SCV001209435 uncertain significance not provided 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1202 of the ELP1 protein (p.Arg1202Trp). This variant is present in population databases (rs201168521, gnomAD 0.06%). 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: 843042). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ELP1 protein function. 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.
Ambry Genetics RCV002462277 SCV002755586 uncertain significance Inborn genetic diseases 2019-10-16 criteria provided, single submitter clinical testing The p.R1202W variant (also known as c.3604C>T), located in coding exon 33 of the IKBKAP gene, results from a C to T substitution at nucleotide position 3604. The arginine at codon 1202 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002505579 SCV002814211 uncertain significance Medulloblastoma; Familial dysautonomia 2022-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271563 SCV001452819 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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