ClinVar Miner

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

dbSNP: rs150586098
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000724279 SCV001060543 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001165659 SCV001327876 uncertain significance Autosomal recessive nonsyndromic hearing loss 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 Laboratory Services, 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.
GeneDx RCV000724279 SCV001757710 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in cis with S648Y in unrelated individuals in the published literature and at GeneDx (PMID: 20352026, 22277662); This variant is associated with the following publications: (PMID: 30245029, 22277662, 26969326, 37811145, 20352026)
Laboratory of Prof. Karen Avraham, Tel Aviv University RCV001165659 SCV005199918 likely pathogenic Autosomal recessive nonsyndromic hearing loss 31 2024-08-20 criteria provided, single submitter research The p.(Arg882Ser) known recessive variant (PMID: 20352026) was detected in an hearing impaired individual with severe-to-profound HL, in compound heterozygosity with another known variant, p.(Ser648Tyr),
Clinical Genetics, Academic Medical Center RCV000724279 SCV001922051 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724279 SCV001964418 uncertain significance not provided no assertion criteria provided clinical testing

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