ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) (rs142990800)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155081 SCV000204765 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Arg350Trp in Exon 04 of DFNB31: This variant is not expected to have clinical si gnificance because it has been identified in 0.4% (16/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs142990800).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757151 SCV000885278 uncertain significance not provided 2017-09-05 criteria provided, single submitter clinical testing The p.Arg350Trp variant (rs142990800) has been reported in the medical literature in a single Egyptian individual with Usher syndrome (Aller 2010); however, inheritance and specific clinical information were not reported for this individual. The p.Arg350Trp variant is listed in the Genome Aggregation Database (gnomAD) browser with an allele frequency of 0.53% in the African population (identified in 128 out of 23,990 chromosomes; 1 homozygote), and is classified as likely benign in ClinVar (Variant ID: 178337). The arginine at codon 350 is moderately conserved considering 12 species (Alamut software v2.9.0), but computational analyses suggest that this variant affects the WHRN protein structure/function (SIFT: damaging, PolyPhen2: possibly damaging, MutationTaster: disease causing). While this variant appears to be a benign polymorphism in the African population, the available evidence is insufficient to classify the clinical significance of this variant with certainty.
GeneDx RCV000757151 SCV000976839 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000757151 SCV001621111 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing

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