ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1385C>G (p.Thr462Arg)

gnomAD frequency: 0.00001  dbSNP: rs754743691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066347 SCV001231354 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 462 of the ELP1 protein (p.Thr462Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is present in population databases (rs754743691, ExAC 0.002%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV001274629 SCV001458958 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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