ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.360C>G (p.Asp120Glu)

gnomAD frequency: 0.00003  dbSNP: rs775972369
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235685 SCV000293642 uncertain significance not provided 2020-02-11 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000235685 SCV000931658 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 120 of the ELP1 protein (p.Asp120Glu). This variant is present in population databases (rs775972369, gnomAD 0.004%). 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: 246191). 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 tolerated. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV000235685 SCV001714307 uncertain significance not provided 2020-11-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479946 SCV002787581 uncertain significance Medulloblastoma; Familial dysautonomia 2022-02-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276640 SCV001463095 uncertain significance Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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