ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.581A>G (p.His194Arg)

dbSNP: rs1682473914
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317856 SCV001508534 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 194 of the ELP1 protein (p.His194Arg). The histidine residue is weakly conserved and there is a small physicochemical difference between histidine 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. 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.
Natera, Inc. RCV001835581 SCV002082165 uncertain significance Familial dysautonomia 2020-10-21 no assertion criteria provided clinical testing

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