ClinVar Miner

Submissions for variant NM_005236.2(ERCC4):c.2734G>A (p.Gly912Arg) (rs150077735)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474309 SCV000559235 likely benign Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia, complementation group Q 2020-11-26 criteria provided, single submitter clinical testing
ITMI RCV000120814 SCV000084979 not provided not specified 2013-09-19 no assertion provided reference population
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001356061 SCV001551121 uncertain significance not provided no assertion criteria provided clinical testing The ERCC4 p.Gly912Arg variant was not identified in the literature nor was it identified in Cosmic or LOVD 3.0. The variant was identified in dbSNP (ID: rs150077735) and ClinVar (classified as likely benign by Invitae). The variant was identified in control databases in 58 of 264586 chromosomes (1 homozygous) at a frequency of 0.0002192 (Genome Aggregation Database March 6, 2019, v2.1.1, non-cancer). The variant was observed in the following populations: East Asian in 57 of 19170 chromosomes (freq: 0.002973) and Latino in 1 of 35058 chromosomes (freq: 0.000029), but was not observed in the African, Ashkenazi Jewish, European (Finnish), European (non-Finnish), Other, or South Asian populations. The p.Gly912 residue is conserved in mammals and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.

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