ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.43A>G (p.Ile15Val)

gnomAD frequency: 0.00001  dbSNP: rs1250977761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001232618 SCV001405182 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 959298). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 15 of the ELP1 protein (p.Ile15Val). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ELP1 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. RCV001834018 SCV002082191 uncertain significance Familial dysautonomia 2018-10-30 no assertion criteria provided clinical testing

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