ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.3461A>G (p.Asp1154Gly)

dbSNP: rs202165319
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001299480 SCV001488572 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1154 of the ELP1 protein (p.Asp1154Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs202165319, 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002504448 SCV002814738 uncertain significance Medulloblastoma; Familial dysautonomia 2022-04-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830162 SCV002082022 uncertain significance Familial dysautonomia 2020-04-15 no assertion criteria provided clinical testing

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