ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.1786T>C (p.Ser596Pro)

gnomAD frequency: 0.00001  dbSNP: rs749510215
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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 RCV001042450 SCV001206130 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine with proline at codon 596 of the ELP1 protein (p.Ser596Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs749510215, ExAC 0.006%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001832409 SCV002082115 uncertain significance Familial dysautonomia 2020-11-05 no assertion criteria provided clinical testing

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