ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.1149C>T (p.Thr383=)

gnomAD frequency: 0.00098  dbSNP: rs149558159
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038860 SCV000062538 likely benign not specified 2017-10-24 criteria provided, single submitter clinical testing p.Thr383Thr in Exon 4 of DFNB31: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.16% (205/126514) of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnoma d.broadinstitute.org; dbSNP rs149558159).
Labcorp Genetics (formerly Invitae), Labcorp RCV000898456 SCV001042664 likely benign not provided 2025-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001165945 SCV001328205 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). 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 RCV001165946 SCV001328206 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.
GeneDx RCV000898456 SCV001982065 uncertain significance not provided 2021-09-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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