ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.452A>T (p.Asp151Val)

dbSNP: rs1829829317
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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 RCV001298066 SCV001487107 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 151 of the ELP1 protein (p.Asp151Val). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and valine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001835413 SCV002082171 uncertain significance Familial dysautonomia 2020-05-05 no assertion criteria provided clinical testing

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