ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3757A>G (p.Arg1253Gly)

dbSNP: rs760084617
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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 RCV001242639 SCV001415741 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1253 of the ELP1 protein (p.Arg1253Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs760084617, ExAC 0.001%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004034726 SCV003896363 uncertain significance not specified 2023-01-26 criteria provided, single submitter clinical testing The c.3757A>G (p.R1253G) alteration is located in exon 35 (coding exon 34) of the IKBKAP gene. This alteration results from a A to G substitution at nucleotide position 3757, causing the arginine (R) at amino acid position 1253 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279854 SCV001466987 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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