ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2932T>C (p.Tyr978His)

gnomAD frequency: 0.00001  dbSNP: rs1435854424
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002002990 SCV002270190 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 978 of the ELP1 protein (p.Tyr978His). This variant is present in population databases (no rsID available, gnomAD 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: "Possibly 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 RCV002492230 SCV002783631 uncertain significance Medulloblastoma; Familial dysautonomia 2022-02-18 criteria provided, single submitter clinical testing

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