ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.243G>T (p.Glu81Asp)

dbSNP: rs1587926883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797629 SCV000937197 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 81 of the ELP1 protein (p.Glu81Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. 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 (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.
Natera, Inc. RCV001825561 SCV002082181 uncertain significance Familial dysautonomia 2021-01-11 no assertion criteria provided clinical testing

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