ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.893C>T (p.Ser298Phe)

dbSNP: rs1288706972
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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 RCV001880269 SCV002163904 uncertain significance not provided 2021-08-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 990664). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 298 of the ELP1 protein (p.Ser298Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV005040125 SCV005674615 uncertain significance Medulloblastoma; Familial dysautonomia 2024-02-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278729 SCV001465761 uncertain significance Familial dysautonomia 2020-08-14 no assertion criteria provided clinical testing

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