ClinVar Miner

Submissions for variant NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) (rs145201970)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000120800 SCV000257629 uncertain significance not specified 2015-02-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765502 SCV000896805 uncertain significance Xeroderma pigmentosum, complementation group b; Trichothiodystrophy 2, photosensitive 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001129472 SCV001289000 uncertain significance Xeroderma pigmentosum, complementation group b 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Baylor Genetics RCV001294157 SCV001482982 uncertain significance Trichothiodystrophy 2, photosensitive 2019-10-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001362006 SCV001558002 uncertain significance not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 283 of the ERCC3 protein (p.Arg283Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs145201970, ExAC 0.1%). This variant has been observed in individual(s) with melanoma (PMID: 30414346). ClinVar contains an entry for this variant (Variation ID: 134128). 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001129472 SCV002010233 uncertain significance Xeroderma pigmentosum, complementation group b 2021-11-03 criteria provided, single submitter clinical testing
ITMI RCV000120800 SCV000084964 not provided not specified 2013-09-19 no assertion provided reference population

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