ClinVar Miner

Submissions for variant NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile)

gnomAD frequency: 0.00006  dbSNP: rs140726146
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795980 SCV000935463 uncertain significance Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q 2022-06-13 criteria provided, single submitter clinical testing 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. 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 isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 642503). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs140726146, gnomAD 0.006%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 909 of the ERCC4 protein (p.Val909Ile).
CeGaT Center for Human Genetics Tuebingen RCV000999524 SCV001156183 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270126 SCV001448995 uncertain significance Xeroderma pigmentosum, group F 2019-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537015 SCV003744358 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.2725G>A (p.V909I) alteration is located in exon 11 (coding exon 11) of the ERCC4 gene. This alteration results from a G to A substitution at nucleotide position 2725, causing the valine (V) at amino acid position 909 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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