ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2325T>G (p.Asp775Glu)

gnomAD frequency: 0.00003  dbSNP: rs757701039
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630693 SCV000751658 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 775 of the ELP1 protein (p.Asp775Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs757701039, ExAC 0.01%). 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.
GeneDx RCV000630693 SCV001875251 uncertain significance not provided 2021-08-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001274119 SCV001457906 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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