ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.2797C>T (p.Arg933Trp)

gnomAD frequency: 0.00002  dbSNP: rs763312635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811480 SCV000951748 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 933 of the ELP1 protein (p.Arg933Trp). This variant is present in population databases (rs763312635, gnomAD 0.1%). 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: 655332). 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 RCV002501105 SCV002806980 uncertain significance Medulloblastoma; Familial dysautonomia 2022-02-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000811480 SCV005195518 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001274113 SCV001457897 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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