ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2165G>A (p.Arg722Gln)

gnomAD frequency: 0.00007  dbSNP: rs370575901
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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 RCV001244637 SCV001417871 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 722 of the ELP1 protein (p.Arg722Gln). This variant is present in population databases (rs370575901, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ELP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 969318). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV002491821 SCV002797119 uncertain significance Medulloblastoma; Familial dysautonomia 2022-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829934 SCV002082092 uncertain significance Familial dysautonomia 2020-06-17 no assertion criteria provided clinical testing

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