ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) (rs150586098)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724279 SCV000225665 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000174376 SCV000603296 uncertain significance not specified 2019-03-18 criteria provided, single submitter clinical testing The WHRN c.2644C>A; p.Arg882Ser variant (rs150586098; ClinVar Variation ID: 194094) is found in the general population with an overall allele frequency of 0.04% (112/281,334 alleles) in the Genome Aggregation Database. The arginine at position 882 is moderately conserved (Alamut software v2.11) and computational analyses (SIFT, PolyPhen-2) of the effects of the p.Arg882Ser variant on protein structure and function predict a deleterious effect.
Invitae RCV000724279 SCV001060543 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001165659 SCV001327876 uncertain significance Deafness, autosomal recessive 31 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.
Illumina Clinical Services Laboratory,Illumina RCV001165660 SCV001327877 uncertain significance Usher syndrome, type 2D 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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