ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)

gnomAD frequency: 0.00003  dbSNP: rs371682994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591470 SCV000701584 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Invitae RCV000792557 SCV000931861 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2022-03-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 551 of the EVC protein (p.Pro551Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 497216). 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 leucine 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. RCV001829632 SCV002083035 uncertain significance Ellis-van Creveld syndrome 2019-10-28 no assertion criteria provided clinical testing

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