ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1127C>T (p.Thr376Met)

gnomAD frequency: 0.00003  dbSNP: rs376671881
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059964 SCV001224620 uncertain significance not provided 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 376 of the ELP1 protein (p.Thr376Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs376671881, ExAC 0.01%). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002482046 SCV002783596 uncertain significance Medulloblastoma; Familial dysautonomia 2022-05-14 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003153919 SCV003843151 uncertain significance Medulloblastoma 2022-11-09 criteria provided, single submitter clinical testing The ELP1 c.1127C>T (p.Thr376Met) missense change has a maximum subpopulation frequency of 0.0058% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with a personal or family history of medulloblastoma. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.
Natera, Inc. RCV001276241 SCV001462246 uncertain significance Familial dysautonomia 2020-01-24 no assertion criteria provided clinical testing

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