ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.224C>T (p.Pro75Leu)

gnomAD frequency: 0.00007  dbSNP: rs553774995
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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 RCV001863747 SCV002120120 uncertain significance not provided 2022-06-27 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 75 of the ERCC3 protein (p.Pro75Leu). This variant is present in population databases (rs553774995, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ERCC3-related conditions. 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.
Sema4, Sema4 RCV002256850 SCV002532627 uncertain significance Xeroderma pigmentosum 2021-11-30 criteria provided, single submitter curation

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