ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1072C>T (p.Arg358Trp)

gnomAD frequency: 0.00001  dbSNP: rs750718439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929102 SCV002199150 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 358 of the ELP1 protein (p.Arg358Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs750718439, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. 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: "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.
Ambry Genetics RCV004907748 SCV005575161 uncertain significance not specified 2024-10-11 criteria provided, single submitter clinical testing The c.1072C>T (p.R358W) alteration is located in exon 11 (coding exon 10) of the IKBKAP gene. This alteration results from a C to T substitution at nucleotide position 1072, causing the arginine (R) at amino acid position 358 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005042530 SCV005674608 uncertain significance Medulloblastoma; Familial dysautonomia 2024-03-26 criteria provided, single submitter clinical testing

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