ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.2193C>T (p.Ser731=) (rs147358257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216972 SCV000270106 likely benign not specified 2015-07-30 criteria provided, single submitter clinical testing p.Ser731Ser in exon 9 of DFNB31: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/10236 African a nd 2/16512 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, ht tp://exac.broadinstitute.org; dbSNP rs147358257).
Invitae RCV001302651 SCV001491866 uncertain significance not provided 2020-09-12 criteria provided, single submitter clinical testing This sequence change affects codon 731 of the WHRN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the WHRN protein. This variant is present in population databases (rs147358257, ExAC 0.02%). This variant has not been reported in the literature in individuals with WHRN-related conditions. ClinVar contains an entry for this variant (Variation ID: 227291). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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