ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.22C>T (p.Arg8Trp)

gnomAD frequency: 0.00001  dbSNP: rs150202264
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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 RCV001342070 SCV001535976 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 8 of the ELP1 protein (p.Arg8Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs150202264, ExAC 0.001%). 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: "Tolerated"; PolyPhen-2: "Possibly 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.
Fulgent Genetics, Fulgent Genetics RCV002483347 SCV002784410 uncertain significance Medulloblastoma; Familial dysautonomia 2022-05-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000544785 SCV001452228 uncertain significance Familial dysautonomia 2020-01-24 no assertion criteria provided clinical testing

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