ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3478G>A (p.Gly1160Arg)

gnomAD frequency: 0.00001  dbSNP: rs1032686725
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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 RCV000807672 SCV000947738 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1160 of the ELP1 protein (p.Gly1160Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV004028623 SCV003693234 uncertain significance not specified 2022-09-14 criteria provided, single submitter clinical testing The c.3478G>A (p.G1160R) alteration is located in exon 33 (coding exon 32) of the IKBKAP gene. This alteration results from a G to A substitution at nucleotide position 3478, causing the glycine (G) at amino acid position 1160 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001275742 SCV001461183 uncertain significance Familial dysautonomia 2020-01-17 no assertion criteria provided clinical testing

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