ClinVar Miner

Submissions for variant NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr)

gnomAD frequency: 0.00022  dbSNP: rs201911663
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001292888 SCV001481576 uncertain significance Cerebrooculofacioskeletal syndrome 3 2019-09-11 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001847231 SCV002010637 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001847231 SCV002104443 uncertain significance not provided 2024-08-26 criteria provided, single submitter clinical testing Identified in individuals with personal or family history of breast or ovarian cancer (PMID: 30306255); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30306255)
Sema4, Sema4 RCV002256729 SCV002534881 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-09 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002480945 SCV002793066 uncertain significance Xeroderma pigmentosum, group G; Cerebrooculofacioskeletal syndrome 3 2022-05-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001847231 SCV003274575 uncertain significance not provided 2022-03-28 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 1185 of the ERCC5 protein (p.Lys1185Thr). This variant is present in population databases (rs201911663, gnomAD 0.03%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 30306255). ClinVar contains an entry for this variant (Variation ID: 997612). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0". The threonine 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.

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