ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1352A>G (p.Tyr451Cys)

dbSNP: rs1829196320
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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 RCV001304536 SCV001493821 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 451 of the ELP1 protein (p.Tyr451Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. 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: "Probably 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 RCV002493597 SCV002788483 uncertain significance Medulloblastoma; Familial dysautonomia 2022-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830210 SCV002082131 uncertain significance Familial dysautonomia 2018-09-09 no assertion criteria provided clinical testing

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