ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3236C>T (p.Ala1079Val)

gnomAD frequency: 0.00001  dbSNP: rs752344797
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239684 SCV001412576 uncertain significance not provided 2022-04-07 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1079 of the ELP1 protein (p.Ala1079Val). This variant is present in population databases (rs752344797, gnomAD 0.006%). 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: 965278). 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"). 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. RCV001828932 SCV002082035 uncertain significance Familial dysautonomia 2020-04-14 no assertion criteria provided clinical testing

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