ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1034A>G (p.Lys345Arg)

dbSNP: rs772819713
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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 RCV001231650 SCV001404179 uncertain significance not provided 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 345 of the ELP1 protein (p.Lys345Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs772819713, ExAC 0.05%). 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. 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 RCV004033131 SCV003536353 uncertain significance not specified 2022-02-17 criteria provided, single submitter clinical testing The c.1034A>G (p.K345R) alteration is located in exon 11 (coding exon 10) of the IKBKAP gene. This alteration results from a A to G substitution at nucleotide position 1034, causing the lysine (K) at amino acid position 345 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001834007 SCV002082145 uncertain significance Familial dysautonomia 2020-07-17 no assertion criteria provided clinical testing

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