ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu)

gnomAD frequency: 0.00005  dbSNP: rs201684551
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000120862 SCV002517031 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483214 SCV002790720 uncertain significance Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 2022-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514633 SCV003267045 uncertain significance not provided 2022-06-14 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 524 of the ERCC5 protein (p.Pro524Leu). This variant is present in population databases (rs201684551, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with ERCC5-related conditions. ClinVar contains an entry for this variant (Variation ID: 134189). 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.
Revvity Omics, Revvity RCV002514633 SCV003833582 uncertain significance not provided 2020-04-03 criteria provided, single submitter clinical testing
ITMI RCV000120862 SCV000085029 not provided not specified 2013-09-19 no assertion provided reference population

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