ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.16C>T (p.Pro6Ser) (rs61760160)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475143 SCV000548330 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2019-11-11 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 6 of the ERCC4 protein (p.Pro6Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs61760160, ExAC 0.1%). This variant has been reported in an individual affected with lung cancer (PMID: 16550608). ClinVar contains an entry for this variant (Variation ID: 134131). 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 serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734582 SCV000862735 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing
Mendelics RCV000989531 SCV001139951 uncertain significance Xeroderma pigmentosum, group F 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000734582 SCV001150808 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000989531 SCV001279552 uncertain significance Xeroderma pigmentosum, group F 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
ITMI RCV000120803 SCV000084967 not provided not specified 2013-09-19 no assertion provided reference population

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