ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) (rs143763650)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825268 SCV000966560 likely benign not specified 2018-09-13 criteria provided, single submitter clinical testing The p.Arg795Gln variant in WHRN is classified as likely benign due to a lack of conservation across species. At least 6 mammalian species have a Glutamine (Gln) at this position. In addition, computational prediction tools predict that this variant does not impact the protein. The variant has also been identified in 0. 2% (73/30782) of South Asian chromosomes, including two homozygotes, by gnomAD ( http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BP4_Strong, BS1_Su pporting.
Illumina Clinical Services Laboratory,Illumina RCV001169713 SCV001332477 uncertain significance Usher syndrome, type 2D 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV001169714 SCV001332478 uncertain significance Deafness, autosomal recessive 31 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.

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