ClinVar Miner

Submissions for variant NM_201548.5(CERKL):c.1498G>A (p.Asp500Asn)

gnomAD frequency: 0.00001  dbSNP: rs771072583
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997613 SCV001153217 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000997613 SCV001421008 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 526 of the CERKL protein (p.Asp526Asn). This variant is present in population databases (rs771072583, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with CERKL-related conditions. ClinVar contains an entry for this variant (Variation ID: 809116). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001836058 SCV002077931 uncertain significance Retinitis pigmentosa 26 2020-02-21 no assertion criteria provided clinical testing

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