ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser)

dbSNP: rs750663365
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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 RCV001894998 SCV002151966 uncertain significance not provided 2021-11-07 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.1%). 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. 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"). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 328 of the ELP1 protein (p.Tyr328Ser).
Fulgent Genetics, Fulgent Genetics RCV002478220 SCV002777830 uncertain significance Medulloblastoma; Familial dysautonomia 2022-04-01 criteria provided, single submitter clinical testing

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