ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3079A>G (p.Asn1027Asp)

gnomAD frequency: 0.00001  dbSNP: rs778943416
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047302 SCV001211251 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1027 of the ELP1 protein (p.Asn1027Asp). This variant is present in population databases (rs778943416, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 844456). 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. RCV001275744 SCV001461189 uncertain significance Familial dysautonomia 2020-02-13 no assertion criteria provided clinical testing

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