ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2378C>G (p.Thr793Arg)

dbSNP: rs201596987
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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 RCV001244341 SCV001417553 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 793 of the ELP1 protein (p.Thr793Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency). 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 C15"). 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 RCV004034776 SCV004864135 uncertain significance not specified 2023-11-27 criteria provided, single submitter clinical testing The c.2378C>G (p.T793R) alteration is located in exon 23 (coding exon 22) of the IKBKAP gene. This alteration results from a C to G substitution at nucleotide position 2378, causing the threonine (T) at amino acid position 793 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001835201 SCV002082083 uncertain significance Familial dysautonomia 2020-04-20 no assertion criteria provided clinical testing

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